PMID: 9192277Jun 1, 1997Paper

Delineation of 14q32.3 deletion syndrome

Journal of Medical Genetics
A P OrtigasJ J Hoo

Abstract

A patient with a 14q32.3 terminal band deletion and cat cry is reported. Review of four other 14q32.3 deletion cases suggests the possible presence of a recognisable 14q32.3 terminal deletion syndrome, which is characterised by (1) apparently postnatal onset of small head size in comparison to body size, (2) high forehead with lateral hypertrichosis, (3) epicanthic folds, (4) broad nasal bridge, (5) high arched palate, (6) single palmar crease, and (7) mild to moderate developmental delay. Although none of the above seven features in unique to this syndrome, and indeed are quite common in other chromosomal disorders or genetic syndromes, patients with a terminal 14q32.3 deletion do show a recognisable facial gestalt. Interestingly, unlike ring chromosome 14, the 14q32.3 terminal deletion has rarely been reported, possibly because it is harder to detect, and an optimal chromosome preparation is required for its identification.

References

Nov 15, 1992·American Journal of Medical Genetics·B A MillerH Capó
Apr 1, 1990·Journal of Medical Genetics·N TelfordJ L Watt
Dec 1, 1990·American Journal of Medical Genetics·M H Kormann-BortolottoA C Adell
Oct 1, 1988·Human Genetics·P J HowardJ Dearlove
Apr 1, 1983·Journal of Medical Genetics·S J Hreidarsson, J Stamberg
May 1, 1995·Human Genetics·R F WintleD W Cox

❮ Previous
Next ❯

Citations

Jun 15, 2004·Clinical Dysmorphology·V McConnellP J Morrison
Feb 12, 2002·Journal of Medical Genetics·D Kamnasaran, D W Cox
Jan 21, 2010·European Journal of Pediatrics·Maria PiccioneGiovanni Corsello
Apr 15, 2009·American Journal of Medical Genetics. Part a·Kamilla Schlade-BartusiakDiane W Cox
Mar 1, 2012·American Journal of Medical Genetics. Part a·Hartmut EngelsHeiko Reutter
Jan 8, 1999·American Journal of Medical Genetics·D MeschedeJ Horst
Nov 15, 2017·American Journal of Medical Genetics. Part a·Elvio Della GiustinaGiovanni Neri
Jun 17, 2003·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·V L SouterC M Disteche
Nov 29, 2002·American Journal of Medical Genetics·Geneviève LefortFranck Pellestor
Jul 13, 2002·American Journal of Medical Genetics·Clara D M van KarnebeekRaoul C M Hennekam
Oct 6, 2006·American Journal of Medical Genetics. Part a·M-L MaurinG Tachdjian
Jan 20, 2005·American Journal of Medical Genetics. Part a·J Lawrence MerrittDusica Babovic-Vuksanovic

❮ Previous
Next ❯

Related Concepts

Related Feeds

Anemia

Anemia develops when your blood lacks enough healthy red blood cells. Anemia of inflammation (AI, also called anemia of chronic disease) is a common, typically normocytic, normochromic anemia that is caused by an underlying inflammatory disease. Here is the latest research on anemia.

Related Papers

American Journal of Medical Genetics. Part a
J Lawrence MerrittDusica Babovic-Vuksanovic
Journal of Medical Genetics
N TelfordJ L Watt
American Journal of Medical Genetics. Part a
Kamilla Schlade-BartusiakD W Cox
American Journal of Medical Genetics. Part a
Kamilla Schlade-BartusiakD W Cox
© 2021 Meta ULC. All rights reserved