PMID: 640658Mar 17, 1978Paper

Partial trisomy 10p in two generations

Human Genetics
I W LurieI A Shved

Abstract

Two cases of partial 10p trisomy due to a t(10;20)(p12;p12) in two generations of a family are presented. Analysis of 20 known cases of such aberrations confirmed the opinion of Schleiermacher et al. (1974) that partial trisomy 10p is a distinct clinically recognizable entity. The most important diagnostic features of this syndrome are dolichocephaly, prominent forehead, wide open sutures and fontanelles, broad root of the nose, cleft lip and palate, clubfoot, and cystic changes in kidneys.

Citations

Apr 1, 1983·Journal of Medical Genetics·A GencíkP Auf der Maur
Jul 1, 1989·Journal of Medical Genetics·P RobertsM A Sills
Jan 25, 1979·Human Genetics·V AllerM L de Torres
Jan 21, 2014·American Journal of Medical Genetics. Part a·Hideaki YagasakiTsutomu Ogata
Apr 17, 2007·American Journal of Human Genetics·A M HolderD A Scott
Feb 1, 1994·American Journal of Medical Genetics·C Kozma, J M Meck
Nov 1, 1993·American Journal of Medical Genetics·A S KulharyaG N Wilson
Jan 1, 1983·American Journal of Medical Genetics·C H GonzalezA Wajntal
Oct 28, 1996·American Journal of Medical Genetics·S J ClementT H Norwood

❮ Previous
Next ❯

Related Concepts

Related Feeds

Birth Defects

Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.