PMID: 9182779Jun 27, 1997Paper

Maternal uniparental heterodisomy for chromosome 16: case report

American Journal of Medical Genetics
V WooJ S Bamforth

Abstract

A patient with uniparental heterodisomy for chromosome 16 presented initially at prenatal diagnosis with a karyotype of 47, XX + 16 on chorionic villus sampling at 11 weeks gestation. The pregnancy was proceeding normally and follow up amniocentesis showed a normal female karyotype. At birth, the child was healthy, but had intrauterine growth retardation. She had unilateral talipes equinovarus and unilateral renal agenesis. Her growth had improved to within the normal range by age three years. On examination, she has epicanthic folds, a flat midface and almond shaped eyes. While these characteristics are not frankly abnormal, they are significantly different from other relatives in her family.

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Citations

Jan 8, 1999·American Journal of Medical Genetics·W T HsuR R Schreck
May 10, 2006·Prenatal Diagnosis·Sylvie LangloisWendy P Robinson
Jun 16, 2005·American Journal of Medical Genetics. Part a·Dieter Kotzot, Gerd Utermann
Jul 8, 2005·American Journal of Medical Genetics. Part a·Natalia V Kovaleva
Mar 25, 2006·Prenatal Diagnosis·Katherine NeiswangerUrvashi Surti
May 14, 2021·Human Reproduction Update·Geerke M EggenhuizenRobert Jan Galjaard

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