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Mosaic Partial Trisomy of Chromosome 5 (q33-q ter) Associated with Fetal Polycystic Kidneys

Published online by Cambridge University Press:  01 August 2014

A. Kriplani ,
N. Banerjee ,
V. Jobanputra  and
K. Kucheria
A. Kriplani*
Affiliation:
Department of Obstetrics and Gynaecology
N. Banerjee
Affiliation:
Department of Obstetrics and Gynaecology
V. Jobanputra
Affiliation:
Department of Anatomy, All India Institute of Medical Sciences, New Delhi, India
K. Kucheria
Affiliation:
Department of Anatomy, All India Institute of Medical Sciences, New Delhi, India
*
Department of Obstetrics and Gynaecology, A.I.I.M.S., New Delhi - 110029India

Abstract

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A case of de novo mosaic partial trisomy of chromosome 5 (q33-q ter) in a stillborn male fetus with bilateral polycystic kidneys, and atrial septal defect, is reported. Fetal cord blood sampling was carried out at 25 weeks of gestation because of bilateral polycystic kidneys with severe oligohydramnios observed on ultrasound examination of the fetus. The family history was notable for the presence of similar phenotypic abnormality in the mother and sibling. However, no chromosomal abnormality was detected in other family members. Significance of this rare chromosomal abnormality and its association with congenital malformations in the fetus and in the family is being discussed.

Keywords

Chromosome 5Dup(5q) syndromeRenal anomalies
Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 47 , Issue 2 , April 1998 , pp. 125 - 129
Copyright
Copyright © The International Society for Twin Studies 1998

References

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