PMID: 7815441Sep 1, 1994Paper

Familial half cryptic translocation t(9;17)

Journal of Medical Genetics
A KöhlerU Müller

Abstract

A half cryptic translocation t(9;17) (p24.2; p13.3) was detected in a large family by fluorescence in situ hybridisation. Unbalanced karyotypes resulted either in lissencephaly and early death or in mental retardation, microcephaly, high arched palate, and deformities of the vertebrae. Some of the features observed in affected persons are characteristic of known syndromes involving either 17p or 9p.

References

Sep 1, 1991·American Journal of Obstetrics and Gynecology·D M BlakeC S Kleinman
Nov 1, 1988·Journal of Medical Genetics·J L HuretJ Lejeune
Jul 1, 1984·American Journal of Medical Genetics·W B DobynsF Greenberg
Mar 1, 1980·American Journal of Human Genetics·C G PalmerD D Weaver
Dec 15, 1993·JAMA : the Journal of the American Medical Association·W B DobynsD H Ledbetter

Citations

Apr 1, 1997·Prenatal Diagnosis·G SengerK Brøndum-Nielsen
May 29, 1998·The British Journal of Ophthalmology·J C SerranoA Kriss
Jan 1, 1996·Journal of Medical Genetics·D P SmithB Say
Jan 7, 2004·American Journal of Medical Genetics. Part a·Mary Ann ThomasVazken M Der Kaloustian
Oct 31, 2002·European Journal of Human Genetics : EJHG·Christine A JoyceN Simon Thomas
Dec 4, 1995·American Journal of Medical Genetics·M MasunoY Kuroki

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