Journal of Clinical and Diagnostic Research, ISSN - 0973 - 709X

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Dr Bhanu K Bhakhri

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Super Speciality Paediatric Hospital and Post Graduate Teaching Institute, Noida
On Sep 2018




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Thiruvalla, Kerala
On Sep 2018




Prof. Somashekhar Nimbalkar

"Over the last few years, we have published our research regularly in Journal of Clinical and Diagnostic Research. Having published in more than 20 high impact journals over the last five years including several high impact ones and reviewing articles for even more journals across my fields of interest, we value our published work in JCDR for their high standards in publishing scientific articles. The ease of submission, the rapid reviews in under a month, the high quality of their reviewers and keen attention to the final process of proofs and publication, ensure that there are no mistakes in the final article. We have been asked clarifications on several occasions and have been happy to provide them and it exemplifies the commitment to quality of the team at JCDR."



Prof. Somashekhar Nimbalkar
Head, Department of Pediatrics, Pramukhswami Medical College, Karamsad
Chairman, Research Group, Charutar Arogya Mandal, Karamsad
National Joint Coordinator - Advanced IAP NNF NRP Program
Ex-Member, Governing Body, National Neonatology Forum, New Delhi
Ex-President - National Neonatology Forum Gujarat State Chapter
Department of Pediatrics, Pramukhswami Medical College, Karamsad, Anand, Gujarat.
On Sep 2018




Dr. Kalyani R

"Journal of Clinical and Diagnostic Research is at present a well-known Indian originated scientific journal which started with a humble beginning. I have been associated with this journal since many years. I appreciate the Editor, Dr. Hemant Jain, for his constant effort in bringing up this journal to the present status right from the scratch. The journal is multidisciplinary. It encourages in publishing the scientific articles from postgraduates and also the beginners who start their career. At the same time the journal also caters for the high quality articles from specialty and super-specialty researchers. Hence it provides a platform for the scientist and researchers to publish. The other aspect of it is, the readers get the information regarding the most recent developments in science which can be used for teaching, research, treating patients and to some extent take preventive measures against certain diseases. The journal is contributing immensely to the society at national and international level."



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Professor and Head
Department of Pathology
Sri Devaraj Urs Medical College
Sri Devaraj Urs Academy of Higher Education and Research , Kolar, Karnataka
On Sep 2018




Dr. Saumya Navit

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Dr Saumya Navit
Professor and Head
Department of Pediatric Dentistry
Saraswati Dental College
Lucknow
On Sep 2018




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Dr. Arunava Biswas
MD, DM (Clinical Pharmacology)
Assistant Professor
Department of Pharmacology
Calcutta National Medical College & Hospital , Kolkata




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Best regards,
C.S. Ramesh Babu,
Associate Professor of Anatomy,
Muzaffarnagar Medical College,
Muzaffarnagar.
On Aug 2018




Dr. Arundhathi. S
"Journal of Clinical and Diagnostic Research (JCDR) is a reputed peer reviewed journal and is constantly involved in publishing high quality research articles related to medicine. Its been a great pleasure to be associated with this esteemed journal as a reviewer and as an author for a couple of years. The editorial board consists of many dedicated and reputed experts as its members and they are doing an appreciable work in guiding budding researchers. JCDR is doing a commendable job in scientific research by promoting excellent quality research & review articles and case reports & series. The reviewers provide appropriate suggestions that improve the quality of articles. I strongly recommend my fraternity to encourage JCDR by contributing their valuable research work in this widely accepted, user friendly journal. I hope my collaboration with JCDR will continue for a long time".



Dr. Arundhathi. S
MBBS, MD (Pathology),
Sanjay Gandhi institute of trauma and orthopedics,
Bengaluru.
On Aug 2018




Dr. Mamta Gupta,
"It gives me great pleasure to be associated with JCDR, since last 2-3 years. Since then I have authored, co-authored and reviewed about 25 articles in JCDR. I thank JCDR for giving me an opportunity to improve my own skills as an author and a reviewer.
It 's a multispecialty journal, publishing high quality articles. It gives a platform to the authors to publish their research work which can be available for everyone across the globe to read. The best thing about JCDR is that the full articles of all medical specialties are available as pdf/html for reading free of cost or without institutional subscription, which is not there for other journals. For those who have problem in writing manuscript or do statistical work, JCDR comes for their rescue.
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Reviewing articles is no less a pain staking process and requires in depth perception, knowledge about the topic for review. It requires time and concentration, yet I enjoy doing it. The JCDR website especially for the reviewers is quite user friendly. My suggestions for improving the journal is, more strict review process, so that only high quality articles are published. I find a a good number of articles in Obst. Gynae, hence, a new journal for this specialty titled JCDR-OG can be started. May be a bimonthly or quarterly publication to begin with. Only selected articles should find a place in it.
An yearly reward for the best article authored can also incentivize the authors. Though the process of finding the best article will be not be very easy. I do not know how reviewing process can be improved. If an article is being reviewed by two reviewers, then opinion of one can be communicated to the other or the final opinion of the editor can be communicated to the reviewer if requested for. This will help one’s reviewing skills.
My best wishes to Dr. Hemant Jain and all the editorial staff of JCDR for their untiring efforts to bring out this journal. I strongly recommend medical fraternity to publish their valuable research work in this esteemed journal, JCDR".



Dr. Mamta Gupta
Consultant
(Ex HOD Obs &Gynae, Hindu Rao Hospital and associated NDMC Medical College, Delhi)
Aug 2018




Dr. Rajendra Kumar Ghritlaharey

"I wish to thank Dr. Hemant Jain, Editor-in-Chief Journal of Clinical and Diagnostic Research (JCDR), for asking me to write up few words.
Writing is the representation of language in a textual medium i e; into the words and sentences on paper. Quality medical manuscript writing in particular, demands not only a high-quality research, but also requires accurate and concise communication of findings and conclusions, with adherence to particular journal guidelines. In medical field whether working in teaching, private, or in corporate institution, everyone wants to excel in his / her own field and get recognised by making manuscripts publication.


Authors are the souls of any journal, and deserve much respect. To publish a journal manuscripts are needed from authors. Authors have a great responsibility for producing facts of their work in terms of number and results truthfully and an individual honesty is expected from authors in this regards. Both ways its true "No authors-No manuscripts-No journals" and "No journals–No manuscripts–No authors". Reviewing a manuscript is also a very responsible and important task of any peer-reviewed journal and to be taken seriously. It needs knowledge on the subject, sincerity, honesty and determination. Although the process of reviewing a manuscript is a time consuming task butit is expected to give one's best remarks within the time frame of the journal.
Salient features of the JCDR: It is a biomedical, multidisciplinary (including all medical and dental specialities), e-journal, with wide scope and extensive author support. At the same time, a free text of manuscript is available in HTML and PDF format. There is fast growing authorship and readership with JCDR as this can be judged by the number of articles published in it i e; in Feb 2007 of its first issue, it contained 5 articles only, and now in its recent volume published in April 2011, it contained 67 manuscripts. This e-journal is fulfilling the commitments and objectives sincerely, (as stated by Editor-in-chief in his preface to first edition) i e; to encourage physicians through the internet, especially from the developing countries who witness a spectrum of disease and acquire a wealth of knowledge to publish their experiences to benefit the medical community in patients care. I also feel that many of us have work of substance, newer ideas, adequate clinical materials but poor in medical writing and hesitation to submit the work and need help. JCDR provides authors help in this regards.
Timely publication of journal: Publication of manuscripts and bringing out the issue in time is one of the positive aspects of JCDR and is possible with strong support team in terms of peer reviewers, proof reading, language check, computer operators, etc. This is one of the great reasons for authors to submit their work with JCDR. Another best part of JCDR is "Online first Publications" facilities available for the authors. This facility not only provides the prompt publications of the manuscripts but at the same time also early availability of the manuscripts for the readers.
Indexation and online availability: Indexation transforms the journal in some sense from its local ownership to the worldwide professional community and to the public.JCDR is indexed with Embase & EMbiology, Google Scholar, Index Copernicus, Chemical Abstracts Service, Journal seek Database, Indian Science Abstracts, to name few of them. Manuscriptspublished in JCDR are available on major search engines ie; google, yahoo, msn.
In the era of fast growing newer technologies, and in computer and internet friendly environment the manuscripts preparation, submission, review, revision, etc and all can be done and checked with a click from all corer of the world, at any time. Of course there is always a scope for improvement in every field and none is perfect. To progress, one needs to identify the areas of one's weakness and to strengthen them.
It is well said that "happy beginning is half done" and it fits perfectly with JCDR. It has grown considerably and I feel it has already grown up from its infancy to adolescence, achieving the status of standard online e-journal form Indian continent since its inception in Feb 2007. This had been made possible due to the efforts and the hard work put in it. The way the JCDR is improving with every new volume, with good quality original manuscripts, makes it a quality journal for readers. I must thank and congratulate Dr Hemant Jain, Editor-in-Chief JCDR and his team for their sincere efforts, dedication, and determination for making JCDR a fast growing journal.
Every one of us: authors, reviewers, editors, and publisher are responsible for enhancing the stature of the journal. I wish for a great success for JCDR."



Thanking you
With sincere regards
Dr. Rajendra Kumar Ghritlaharey, M.S., M. Ch., FAIS
Associate Professor,
Department of Paediatric Surgery, Gandhi Medical College & Associated
Kamla Nehru & Hamidia Hospitals Bhopal, Madhya Pradesh 462 001 (India)
E-mail: drrajendrak1@rediffmail.com
On May 11,2011




Dr. Shankar P.R.

"On looking back through my Gmail archives after being requested by the journal to write a short editorial about my experiences of publishing with the Journal of Clinical and Diagnostic Research (JCDR), I came across an e-mail from Dr. Hemant Jain, Editor, in March 2007, which introduced the new electronic journal. The main features of the journal which were outlined in the e-mail were extensive author support, cash rewards, the peer review process, and other salient features of the journal.
Over a span of over four years, we (I and my colleagues) have published around 25 articles in the journal. In this editorial, I plan to briefly discuss my experiences of publishing with JCDR and the strengths of the journal and to finally address the areas for improvement.
My experiences of publishing with JCDR: Overall, my experiences of publishing withJCDR have been positive. The best point about the journal is that it responds to queries from the author. This may seem to be simple and not too much to ask for, but unfortunately, many journals in the subcontinent and from many developing countries do not respond or they respond with a long delay to the queries from the authors 1. The reasons could be many, including lack of optimal secretarial and other support. Another problem with many journals is the slowness of the review process. Editorial processing and peer review can take anywhere between a year to two years with some journals. Also, some journals do not keep the contributors informed about the progress of the review process. Due to the long review process, the articles can lose their relevance and topicality. A major benefit with JCDR is the timeliness and promptness of its response. In Dr Jain's e-mail which was sent to me in 2007, before the introduction of the Pre-publishing system, he had stated that he had received my submission and that he would get back to me within seven days and he did!
Most of the manuscripts are published within 3 to 4 months of their submission if they are found to be suitable after the review process. JCDR is published bimonthly and the accepted articles were usually published in the next issue. Recently, due to the increased volume of the submissions, the review process has become slower and it ?? Section can take from 4 to 6 months for the articles to be reviewed. The journal has an extensive author support system and it has recently introduced a paid expedited review process. The journal also mentions the average time for processing the manuscript under different submission systems - regular submission and expedited review.
Strengths of the journal: The journal has an online first facility in which the accepted manuscripts may be published on the website before being included in a regular issue of the journal. This cuts down the time between their acceptance and the publication. The journal is indexed in many databases, though not in PubMed. The editorial board should now take steps to index the journal in PubMed. The journal has a system of notifying readers through e-mail when a new issue is released. Also, the articles are available in both the HTML and the PDF formats. I especially like the new and colorful page format of the journal. Also, the access statistics of the articles are available. The prepublication and the manuscript tracking system are also helpful for the authors.
Areas for improvement: In certain cases, I felt that the peer review process of the manuscripts was not up to international standards and that it should be strengthened. Also, the number of manuscripts in an issue is high and it may be difficult for readers to go through all of them. The journal can consider tightening of the peer review process and increasing the quality standards for the acceptance of the manuscripts. I faced occasional problems with the online manuscript submission (Pre-publishing) system, which have to be addressed.
Overall, the publishing process with JCDR has been smooth, quick and relatively hassle free and I can recommend other authors to consider the journal as an outlet for their work."



Dr. P. Ravi Shankar
KIST Medical College, P.O. Box 14142, Kathmandu, Nepal.
E-mail: ravi.dr.shankar@gmail.com
On April 2011

Important Notice

Original article / research
Year : 2007 | Month : April | Volume : 1 | Issue : 2 | Page : 33 - 38

Potential Use Of Blood, Buccal And Urine Cells For Rapid Noninvasive Diagnosis Of Suspected Aneuploidy Using Fluorescence In Situ Hybridization (FISH)

HALDER A, FAUZDAR A

Dept. of Reproductive Biology, AIIMS, New Delhi 110029, India.

Correspondence Address :
Corresponding Author: Dr Ashutosh Halder
Dept. of Reproductive Biology, AIIMS, New Delhi 110029, India. Tel: 011-26593304 ext. 4211/9313309579 (m)
Email: ashutoshhalder@yahoo.co.in

Abstract

Objective: The objective of the study was to determine whether noninvasive and readily available cells could be used for rapid diagnosis of specific chromosomal abnormality to facilitate management of patients in acute/specialized situation.

Methods: In the present study we analyzed blood, buccal & urine cells from 3 patients with pure trisomy 21 with locus specific FISH probes for chromosome 21. Three normal subjects were included for comparison. The clinical cases were confirmed with conventional cytogenetic studies of peripheral lymphocytes before inclusion in the study.

Result: Average frequencies for 1, 2 and 3 hybridization signals were 2.2%, 6% and 91% for blood cells, 2.5%, 7% and 89.8% for buccal cells and 2%, 9.3% and 87.4% for urine cells, respectively in the cases. False trisomic cells were less than 1% in all type of cells in controls. False monosomic cells were 3.6%, 4.5% & 9.8% for blood, buccal & urine cells in controls which was quite similar to alphoid FISH probes (chromosome 1 & 18).

Conclusion: This study suggests DNA locus specific FISH probes can be used in blood/buccal/urine cells for rapid noninvasive diagnosis, but because of high rates of false monosomy, it may not be accurate to diagnose low (<10%) level of mosaicism. The test is suitable for medically urgent situations for management guidance.

Keywords

blood cells, buccal cells, urine cells, rapid noninvasive interphase FISH

Chromosomal abnormality is the major cause of reproductive wastage, congenital malformation, mental retardation and cancer. Cytogenetics is indicated to diagnose a known suspected chromosomal syndrome, unexplained psychomotor retardation, sexual development anomaly, infertility, dysmorphism, cancer, recurrent pregnancy loss and pregnancy at risk for aneuploidy. Cytogenetic analysis by conventional chromosomal banding techniques, although an important standard method, requires cell culture, skilled personnel and is labor as well as time intensive. Interphase FISH has expanded the possibilities for precise and rapid diagnosis in clinical genetics including cancer (1),(2). This approach was tested on peripheral blood cells (3),(4), buccal smears (3)-(8) urine smears (9),(10) and cervical smears (11),(12). The rationale for the use of such smears is that they are noninvasive, rapid and direct i.e., tissue culture is eliminated. They are important in situations like acutely sick newborns with a suspected aneuploidy or suspected microdeletion syndrome requiring intensive therapy and newborns with ambiguous genitalia requiring quick sex assignment for management as well as social reason. Chromosome analysis by conventional method is impossible in non-dividing terminally differentiated cells viz., buccal cells, urine cells, etc or may be difficult to perform in severely ill patients in particular acutely sick newborn where venous blood sampling is difficult. With FISH technique it is possible to identify the number of specific chromosomes in interphase cells in almost all type of tissue including buccal cells, urine cells or cells from heel prick blood. Furthermore, buccal cells, urine cells or heel prick blood cells represent ectodermal (buccal cells), endodermal (urine cells) and mesodermal (blood cells) origin. In addition, a large number of interphase cells (viz. few hundreds) can be evaluated in short period of time with interphase FISH. Hence this approach is most appropriate method for mosaicism study as well. However, use of direct smears is frequently associated with poor hybridization due to difficulties in accessibility of probes and associated debris. The present study is designed to overcome the above difficulties and at the same time to maintain all the benefits of smears with most difficult locus specific FISH probes. The utility and potential are explored and discussed.

Material and Methods

Patients
Three children between 9-12 years with features of trisomy 21 and cytogenetically proven pure trisomy 21 cases were selected from the Medical Genetics department of SGPGIMS, Lucknow. Peripheral venous blood samples from three matched cytogenetically normal males were included for comparison. Cytogenetics was performed with routine GTG banding and there were no abnormalities.

Sample Processing

Finger Prick Blood:
About 100ul blood was collected with a micropipette into a 1.5ml micro centrifuge tube containing 400ul PBS (phosphate buffered saline, pH7.4, Sigma), mixed well and centrifuged at 5000 rpm for 5 minutes. The supernatant was discarded and about 500ul PBS was added, mixed and centrifuged. This washing procedure was repeated three times. About 400ul hypotonic solution was added to the pellet, mixed well and incubated for 20 minutes in 50mMol KCl before adding 100ul fresh fixative (3:1 methanol and acetic acid) and then centrifuged. The supernatant was discarded and 1000ul fixative was added into the cell pellet, mixed and centrifuged. This was repeated three times before dissolving into 50-100ul fresh fixative depending on the cell pellet size. Approximately 15-20ul of cell suspension was used for slide preparation.

Mouth Wash:
Patients were asked to rinse the oral cavity with tap water 2-3 times to minimize contamination by food particles and microorganisms before providing a mouth wash sample into a 50ml plastic tube. The tube was centrifuged at 5000 rpm for 5 minutes. The cell pellet was washed 3 times in PBS and transferred to a 1.5ml microcentrifuge tube. About 1000ul hypotonic solution was added to the pellet, mixed well and incubated for 20 minutes in 50mMol KCl before adding 100ul fresh fixative (3:1 methanol and acetic acid) and then centrifuged. The supernatant was discarded and 1000ul fixative was added into the cell pellet, mixed and centrifuged. This was repeated three times before dissolving into 100-300ul fresh fixative depending on the cell pellet size. Approximately 15-20ul of cell suspension was used for slide preparation.

Urine Sample:
A mid stream urine sample was collected into a 50ml plastic centrifuge tube. Urine cells were washed three times in PBS, hypotonic treatment was given for 20 minutes and the pellet fixed using 3 washes in fixative as with mouth wash. Finally, cells were re-suspended in 50-100ul fresh fixative depending upon the cell pellet size.

Slide Preparation
Approximately 10ul cell suspension was applied onto each clean un-coated microscopic glass slide. The slide was then treated with 70% acetic acid for 1 minute (for blood & urine cells) or 2 minutes (buccal cells) and dehydrated in alcohol series (70%, 90% & 100% ethanol) for three minutes in each. The fixed cells on slides were treated for 20 minutes at 37ºC in pepsin solution (10 ug/ml, pH 1.5-2.0), washed in water, fixed in 1% paraformaldehyde at 4ºC for ten minutes and finally dehydrated as before.

FISH Probes
Chromosome 21 locus specific probe was commercially purchased from Vysis Inc. (France) whereas chromosome 1 & 18 alphoid probes were obtained from Uniba Biologia, Italy.

Probe preparation & FISH
Probe preparation, hybridization, post hybridization washing and visualization was as per the Vysis protocol (www.vysis.com). Probes and cell DNA were denatured together for 3 minutes (for blood & urine cells) or 5 minutes (for buccal cells) at 75ºC in an oven and incubated at 37ºC in a moist chamber for 12-18 hours (overnight). During the study, lymphocyte metaphase spreads were used to check hybridization specificity & efficiency. Post hybridization washing was done as per the Vysis protocol using NP40. The slides were counterstained & mounted using antifade containing DAPI before screening under a Nikon Optiphot/Olympus BX51 fluorescent microscope. Images were captured using a digital imaging system (Applied Imaging, UK). N

Results

The hybridization efficiency based on metaphase evaluation of probes was 100%, and no cross-hybridization occurred. The interphase hybridization efficiency of probes on all types of cells was over 90%. Approximately a few hundred nuclei each from blood (857), buccal (1002) & urine cells (397) were scored from three trisomy 21 cases with the chromosome 21 locus specific probe. The expected number of signals was obtained in 91%, 89.8% and 87.4% nuclei with blood, buccal and urine cells respectively (Table/Fig 5), (Table/Fig 6), (Table/Fig 7). This result was comparable with chromosome 1 & 18 alphoid probes (Table/Fig 8). Figures show signals obtained with blood [Table /Fig 1], [Table /Fig 2], buccal (Table/Fig 3) and urine [Table /Fig 4] samples with the chromosome 21 locus specific probe.

Discussion

The intent of this study was to determine whether blood, buccal & urine cells could be used for specific diagnosis for facilitating management of patients. This study indicates that interphase FISH with locus specific probes can be used successfully on these preparations. The technique is simple, noninvasive and quick providing results in few hours (alphoid probe) to 24 hours. The cells are easily available and can be collected without trauma by noninvasive/minimally invasive techniques. As the procedure was rapid, it can be of extreme help in situations like ambiguous genitalia where assignment of sex is required in a few hours for social reasons as well as for appropriate management (4),(6). It has similar value in an acutely sick baby with malformations suggestive of trisomy 21/18/13/etc (4) or microdeletions (DiGeorge, Velo Cardio Facial, etc) (7) requiring urgent operation/intensive care.

Mosaicism is a common condition among patients with a chromosome abnormality, in particular, aneuploidy. Our study with the above cells indicates that FISH with chromosome 21/1/18 probes is sufficient to detect monosomic cells constituting >10% of the total cell population or trisomic cells constituting >5% of total cell population. However, low level of mosaicism (<10%) cannot be diagnosed confidently particularly with urine cells. Buccal cells are derived from ectoderm. Urine cells are mostly derived from endoderm whereas blood cells are from mesoderm. Interphase FISH using these cells is appropriate to detect tissue specific mosaicism because the extent of mosaicism is known to vary significantly among different tissues. Pallister-Killian syndrome (PKS), a rare disorder, is characterized by tissue-limited or tissue-specific mosaicism. The characteristic chromosome abnormality associated with PKS is i(12p), which is seen predominantly in skin fibroblast cultures. Diagnosis of i(12p) on buccal smears was shown to be an easy and feasible method (13).
Change in chromosome number (aneuploidy) has been consistently linked with many genetic disorders including cancer. Since 90% of cancers arise in epithelial tissue, which is difficult to culture, techniques that measure aneuploidy in these tissues i.e., FISH would be very useful. Here this study suggests FISH can be used to detect aneuploidy in exfoliated epithelial cells collected from the mouth (buccal) and bladder (urine). Since chromosomal aberrations are involved even in pre-cancerous conditions, FISH on buccal cells of betel quid chewers can be used for screening (14). Similarly, this can be extended for monitoring exposure to genotoxic agents including effect of hyperstimulating drugs on ovarian follicular cells. Recently, Madon et al. (15) has reported feasibility of the use of cumulus cells (granulosa cells) obtained through ovum pick-up for aneuploidy study by interphase FISH.
There are some drawbacks in interphase FISH. We did not find the expected number of signals in all types of cells similar to Jenkins et al (16). Many factors can be attributed to this, including uptake of probe through the cell membrane particularly with buccal cells (squamous cells). Harris et al (5) used buccal smears from trisomy 21 cases by interphase FISH. They reported a probe efficiency of 71%. In this study the probe efficiency was above 90% for the locus specific probe which is more difficult to hybridize. This difference may be due to use of smears where release of nuclei and hypotonic effect are difficult. Protein digestion with pepsin in our study was found to be efficient in removing the keratinized cell membrane and optimizing probe penetration. A 30 min digestion with 300 micrograms/ml of pepsin in 0.01 M HCl optimized probe penetration in buccal cell

Conclusion

In conclusion, interphase FISH on blood, buccal and urine cell is a rapid, effective and non-invasive method for the diagnosis of chromosome aberrations. This test is very specific and reliable when used with a strong clinical suspicion. In cases where the FISH result is consistent with the phenotype, no further studies are required. However, a follow-up with complete chromosome analysis should be recommended for comparison and additional information whenever possible due to the limitations inherent in interphase cytogenetics and DNA probes.

Key Message

Interphase FISH on blood, buccal and urine cells is a rapid, effective and non-invasive method for the diagnosis of chromosome aneuploidy.

Acknowledgement

The authors thank Professor Mariano Rocchi (University of Bari, Italy) for resources on molecular cytogenetics (plasmid clones for chromosome 1 & 18). We also thank Dr J Pahi (ex senior resident) and Mr. Ramsaran (technical officer, cytogenetics) of the Department of Medical Genetics, for providing various assistances during the study.

References

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Kucheria K, Jobanputra V, Talwar R, Ahmed ME, Dada R, Sivakumaran TA. Detection of Human Aneuploidies in Prenatal and Postnatal Diagnosis using Molecular Cytogenetics. Indian Journal of Human Genetics 2002;8:11-14.
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Harris C, Wilkerson C, Clark K, Lazarski K, Meisner L. Potential use of buccal smears for rapid diagnosis of autosomal trisomy or chromosomal sex in newborn infants using DNA probes. Am J Med Genet 1994;53:355-358.
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Schad CR, Kuffel DG, Wyatt WA, Zinsmeister AR, Jenkins RB, Dewald GW, et al. Application of fluorescent in situ hybridization with X and Y chromosome specific probes to buccal smear analysis. Am J Med Genet 1996;66:187-192.
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Nieuwint AW, Van Hagen JM, Heins YM, Madan K, Ten Kate LP. Rapid detection of microdeletions using fluorescence in situ hybridisation (FISH) on buccal smears. J Med Genet 2000;37:E4.
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Manasse BF, Lekgate N, Pfaffenzeller WM, de Ravel TJ. The Pallister-Killian syndrome is reliably diagnosed by FISH on buccal mucosa. Clin Dysmorphol 2000;9:163-165.
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Bollmann M, Heller H, Bankfalvi A, Griefingholt H, Bollmann R. Quantitative molecular urinary cytology by fluorescence in situ hybridization: a tool for tailoring surveillance of patients with superficial bladder cancer? BJU Int 2005;95:1219-1225.
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Lubbe L, Nowack R, May M, Ullmann K, Gunia S, Kaufmann O, et al. FISH--a new noninvasive method for the diagnosis of urinary bladder carcinomas. Clin Lab 2004;50:395-402.
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Mian C, Bancher D, Kohlberger P, Kainz C, Haitel A, Czerwenka K, et al. Fluorescence in situ hybridization in cervical smears: detection of numerical aberrations of chromosomes 7, 3, and X and relationship to HPV infection. Gynecol Oncol 1999;75:41-46.
Tables and Figures
[Table / Fig - 1] [Table / Fig - 2] [Table / Fig - 3] [Table / Fig - 4] [Table / Fig - 5] [Table / Fig - 6] [Table / Fig - 7] [Table / Fig - 8]

JCDR is now Monthly and more widely Indexed .