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. 2013 Feb;7(2):355-7.
doi: 10.7860/JCDR/2013/4354.2767. Epub 2013 Feb 1.

A Consanguinity Related Autosomal Translocation which Leads to Premature Ovarian Failure

Mot Yee Yik  1 , Murizah Mohd Zain, Zubaidah Zakaria, Narazah Mohd Yusoff
Affiliations

A Consanguinity Related Autosomal Translocation which Leads to Premature Ovarian Failure

Mot Yee Yik et al. J Clin Diagn Res. 2013 Feb.

Abstract

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.

Keywords: Chromosomal abnormality; Consanguinity; Cytogenetic test; Premature ovarian failure; Translocation.

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Figures

[Table/Fig-1]:
[Table/Fig-1]:
Transabdominal ultrasound image of the patient reveals the presence of a small uterus
[Table/Fig-2]:
[Table/Fig-2]:
Pedigree of the family
[Table/Fig-3]:
[Table/Fig-3]:
Karyotype of the proband illustrating a single autosomal translocation between chromosome 5 (p15.3) and chromosome 7 (q11.23).
[Table/Fig-4]:
[Table/Fig-4]:
FISH image with whole chromosome paint (WCP) of chromosome 5 (spectrum green) and chromosome 7 (spectrum orange).
See this image and copyright information in PMC

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