PMID: 1518027Aug 1, 1992Paper

Simultaneous partial monosomy 10p and trisomy 5q in a case of hypoparathyroidism

Journal of Medical Genetics
M M LaiA C Berry

Abstract

We report a case of monosomy for the distal region of the short arm of chromosome 10 (p13----ter) associated with trisomy for the terminal region of the long arm of chromosome 5 (q35.2----ter) that had originated from adjacent 1 segregation of a maternal reciprocal balanced translocation (5;10)(q35.2;p13). We review the clinical findings of previously reported cases of both partial monosomy for 10p and of partial trisomy for 5q, but to our knowledge there are no previous reports of the effects of these two chromosome anomalies together. Clinically our patient showed features typical of partial monosomy for 10p (including hypothyroidism) rather than partial trisomy 5q.

References

May 1, 1991·American Journal of Medical Genetics·G MonacoF Ciccimarra
Apr 1, 1983·Journal of Medical Genetics·A GencíkP Auf der Maur
Jun 1, 1980·Archives of Disease in Childhood·G Bridgman, L J Butler

Citations

Mar 12, 2004·Seminars in Neonatology : SN·Stephanie C Hsu, M A Levine
Jul 1, 1995·Baillière's Clinical Endocrinology and Metabolism·J H Bassett, R V Thakker
Nov 5, 2011·American Journal of Medical Genetics. Part a·Anja HagenAndreas Merkenschlager
Jan 27, 2010·American Journal of Medical Genetics. Part a·Ying S ZouJeff M Milunsky
Mar 14, 2002·American Journal of Medical Genetics·Brynn LevyNataline B Kardon
Mar 1, 1996·American Journal of Medical Genetics·J C BarberN R Dennis
May 22, 1995·American Journal of Medical Genetics·L A SchimmentiG L Wiesner
Mar 27, 1995·American Journal of Medical Genetics·E HonT R Gunn
Aug 1, 1994·American Journal of Medical Genetics·M ShapiraA Lorber
Apr 8, 2006·Birth Defects Research. Part A, Clinical and Molecular Teratology·Jaclyn DouyardVirginia Kimonis

Related Concepts

Autosome Abnormalities
Chromosomes, Human, Pair 10
Chromosomes, Human, Pair 5
Idiopathic Hypoparathyroidism
Karyotype Determination Procedure
Monosomy
Chromosomal Translocation
Partial Trisomy
Autosomal Chromosome Disorders

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