Hostname: page-component-cd9895bd7-fscjk Total loading time: 0 Render date: 2024-12-28T02:02:15.711Z Has data issue: false hasContentIssue false
  • English
  • Français

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

Core share and HTML view are not available for this content. However, as you have access to this content, a full PDF is available via the ‘Save PDF’ action button.

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

REFERENCES

1.Bassett, AS, McGillivray, BC, Jones, BD, Pantzar, JT (1988): Partial trisomy chromosome 5 cosegregating with schizophrenia. Lancet 1: 799–801.Google Scholar
2.Curry, CJR, Loughman, WD, Franke, Uet al (1979): Partial trisomy for the distal long arm of chromosome 5(region q34-q ter). A new clinically recognizable synrdrome. Clin Genet 15: 454–61.CrossRefGoogle Scholar
3.Gilgenkrantz, S, Dulucq, P, Bresson, JL, Gouget, A, Pernot, C, Gregoire, MJ (1981): Partial trisomy of the long arm of chromosome 5(q13-q22) resulting from maternal insertions der ins (10:5). J Med Genet 18:456–480.Google Scholar
4.Kessel, E, Pfeiffer, RAM (1979): Tandem duplication 5(q13-q22) in a mentally retarded girl. Hum Genet 52: 217–222.CrossRefGoogle Scholar
5.McGillivray, BC, Bassett, AS, Langlois, S, Pantzar, T, Wood, S (1990): Familial 5q11.2-13.3 segmental duplication cosegregating with multiple anomalies, including schizophrenia. Am J Med Genet 35: 10–13.Google Scholar
6.Passarge, E, Bartsch-Sandhoff, M, Rehder, H (1982): Fetal manifestation of a chromosomal disorder: partial duplication of the long arm of chromosome 5(5q33-q ter). Teratology 25: 221–225.Google Scholar
7.Rodewald, A, Zankl, M, Gley, EO, Zang, KD (1980): Partial trisomy 5q: Three different pheno-types depending on different duplication segments. Hum Genet 55: 191–198.Google Scholar
8.Rojas-Martinez, A, Garcia-Cruz, D, Medina, C, Moller, M, Restrepo, CM, Rivera, H (1990):Tandem duplication of proximal 5q. Ann Genet 33: 228–230.Google Scholar
9.Yip, MY, Kemp, J, Hanson, N, Wilson, M, Purvis-Simth, S, Lam-Po-Tang, PRL (1989): Duplication of 5q1 1.2-q13.1 from a familial (5:20) balanced inversion. Am J Med Genet 32: 220–223.Google Scholar