PMID: 9450861Feb 5, 1998Paper

Familial dup(5)(q15q21) associated with normal and abnormal phenotypes

American Journal of Medical Genetics
S LiT L Yang-Feng

Abstract

We studied a familial dup(5q) present in a phenotypically normal father and his monozygotic twin daughters with different abnormal phenotypes. High-resolution chromosome analysis suggested that the duplicated segment was of region q15-21, which seems to be the smallest dup(5q) reported thus far. This dup(5q) was confirmed by fluorescence in situ hybridization with a chromosome 5 painting library and 5q cosmid clones. The presence of the dup(5q) in a normal father suggested that the duplication itself may be harmless. The anomalies in the twins may be due to processes other than this chromosome change.

References

Jun 1, 1989·American Journal of Medical Genetics·M Y YipP R Lam-Po-Tang
Mar 15, 1993·American Journal of Medical Genetics·E M PettyT L Yang-Feng

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Citations

Aug 3, 2005·Journal of Medical Genetics·J C K Barber
Jul 23, 2011·European Journal of Medical Genetics·Diana ZahnleiterChristian T Thiel
Mar 14, 2002·American Journal of Medical Genetics·Brynn LevyNataline B Kardon
Jun 9, 2001·Genetics in Medicine : Official Journal of the American College of Medical Genetics·A RobertsonL J Elsas
Sep 5, 2002·American Journal of Medical Genetics·Brad AngleMargaret Barch
Sep 17, 2004·American Journal of Medical Genetics. Part a·Y H J M ArensC T R M Schrander-Stumpel
Jun 14, 2006·American Journal of Medical Genetics. Part a·Chih-Ping ChenWayseen Wang
Feb 24, 2010·Clinical Dysmorphology·Siddharth BankaJill Clayton-Smith
Apr 8, 2006·Birth Defects Research. Part A, Clinical and Molecular Teratology·Jaclyn DouyardVirginia Kimonis
Oct 13, 2006·Human Molecular Genetics·Xiangning ChenKenneth S Kendler
May 15, 2007·Journal of Applied Genetics·Małgorzata KowalczykAgnieszka Tomaszewska
Jun 9, 2001·Genetics in Medicine : Official Journal of the American College of Medical Genetics·D J WolffL Carrel

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