A Consanguinity Related Autosomal Translocation which Leads to
Premature Ovarian Failure
Published: February 1, 2013 | DOI: https://doi.org/10.7860/JCDR/2013/.2767
Mot Yee Yik, Murizah Mohd Zain, Zubaidah Zakaria, Narazah Mohd Yusoff
1. PhD Student, Advanced Medical and Dental Institute,
Universiti Sains Malaysia.
2. Fellow in Reproductive Medicine, Consultant Obstetrician
and Gynaecologist, Reproductive Medicine Specialist,
Infertility Unit, Hospital Sultanah Bahiyah.
3. Consultant Pathologist, Institute for Medical Research.
4. Consultant Haematologist, Associate Professor, Advanced
Medical and Dental Institute, Universiti Sains Malaysia.
Correspondence
Narazah Mohd Yusoff,
Regenerative Medicine Cluster,
Advanced Medical and Dental Institute,
Universiti Sains Malaysia, No. 84,
PersiaranSeksyen 4/9, Bandar Putra Bertam,
13200 Kepala Batas, SeberangPerai Utara,
Pulau Pinang, Malaysia.
E-mail: narazah@amdi.usm.edu.my
The premature ovarian failures with underlying chromosomal abnormalities are normally X-linked, although their associations with the autosomal and the Robertsonian translocations are also possible. Here, we are reporting a case of premature ovarian failure which was associated with a translocation between the long arm of chromosome 7 at q11.23 and the short arm of chromosome 5 at p15.3. The proband was a 26-year-old Malay woman who presented with premature ovarian failure, who was referred for cytogenetic testing due to the suspicion of a chromosomal anomaly. Her physical examination revealed that she had no abdominal or pelvic masses and that she had normal secondary sexual characteristics. Her medical history as well, revealed no points for concern. However, a consanguineous relationship existed, as the patient’s paternal grandmother and maternal grandfather were biological cousins. Our present case indicated that region p15.3 of chromosome 5 and region q11.23 of chromosome 7 possibly carried essential genes for the ovarian function and that they postulated a link between the consanguinity and the chromosomal abnormalities.
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