Year :
2021
| Month :
April
| Volume :
15
| Issue :
4
| Page :
GD01 - GD03
Full Version
Pentasomy X Syndrome in Neonate: A Rare Disorder
Published: April 1, 2021 | DOI: https://doi.org/10.7860/JCDR/2021/46365.14752
Prashant Sanjay Jagtap, Smarajit Maiti, Neeraja Koppaka, UshangKate, Anurita Pais
1. Scientific Officer, Department of Cytogenetics, SRL Limited, Mumbai, Maharashtra, India.
2. Consultant Paediatrician and Neonatologist, Department of Paediatrics and Neonatologist, Bhagirathi Neotia Women and Child Care Centre, Newtown, Kolkata, India.
3. Junior Cytogeneticist, Department of Cytogenetics, SRL Limited, Mumbai, Maharashtra, India.
4. Senior Cytogeneticist, Department of Cytogenetics, SRL Limited, Mumbai, Maharashtra, India.
5. Head, Department of Cytogenetics, SRL Limited, Mumbai, Maharashtra, India.
Correspondence Address :
Dr. Anurita Pais,
Head, Department of Cytogenetics, SRL Diagnostics Limited,
Mumbai, Maharashtra, India.
E-mail: anurita.pais@srl.in
Abstract
Pentasomy X is a rare syndrome with variable phenotype, that affects females with characteristic clinical features such as severe mental retardation with delayed speech, short stature, facial dimorphism’s, osseous, articular/skeletal/limb abnormalities, and congenital heart defects. Clinical course of the disease seems to be adverse as there has been no evidence of life till adulthood. This case study was of one-month-old girl referred for cytogenetic evaluation that revealed 49,XXXXX karyotype, indicating Pentasomy X syndrome. Studies have mentioned meiotic successive nondisjunction errors in maternal meiosis or combined maternal and paternal origin as a mechanism for Pentasomy X formation which has been supported by genotyping studies using Short Tandem Repeats (STR) X-linked polymorphic markers. An early restricted fetal growth and movements along with increased nuchal fold in pregnancy could suggest referral to prenatal karyotyping studies. Prenatal diagnosis of Pentasomy X syndrome is a challenge due to absence of advanced maternal age and maternal screening markers along with subtle nonspecific Ultrasonography (USG) abnormalities that are detected late in the pregnancy. Hence, there is a strong need of Non Invasive Prenatal Screening (NIPS) with clinical coverage of sex chromosomes in routine pregnancy management along with 3D high resolution USG evaluation as a mandatory workup to rule out Pentasomy X irrespective of advanced maternal age. Management frame work through genetic counseling help patients to adapt to the challenging diagnosis and early interventions for patient management.
Keywords
Chromosomal analysis, Dysmorphism, Non-disjunction, Prenatal diagnosis, Short tandem repeats markers
10.7860/JCDR/2021/46365.14752
Date of Submission: Aug 19, 2020
Date of Peer Review: Nov 02, 2020
Date of Acceptance: Mar 03, 2021
Date of Publishing: Apr 01, 2021
AUTHOR DECLARATION:
• Financial or Other Competing Interests: None
• Was informed consent obtained from the subjects involved in the study? No
• For any images presented appropriate consent has been obtained from the subjects. No
PLAGIARISM CHECKING METHODS:
• Plagiarism X-checker: Aug 22, 2020
• Manual Googling: Feb 13, 2021
• iThenticate Software: Mar 22, 2021 (18%)
ETYMOLOGY: Author Origin
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