Delineation of a critical region on chromosome 18 for the del(18)(q12.2q21.1) syndrome

American Journal of Medical Genetics. Part a
Karen BuysseFrank Speleman

Abstract

Deletions involving the long arm of chromosome 18 have been reported in many patients. Most of these deletions are localized in the distal half of the long arm (18q21.1 --> qter) and are detectable by standard cytogenetic analysis. However, smaller interstitial deletions leading to a recognizable phenotype and residing in the region around chromosome band 18q12.3 (bands q12-q21) are less common. Here we report on an interstitial deletion of less than 1.8 Mb within chromosomal band 18q12.3. The phenotypic features of the propositus correspond well with those observed in patients with larger cytogenetically detectable deletions encompassing chromosome band 18q12.3. The deletion enabled us to define a critical region for the following features of the del(18)(q12.2q21.1) syndrome: hypotonia, expressive language delay, short stature, and behavioral problems.

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Citations

May 4, 2010·Nature Genetics·Alexander HoischenJoris A Veltman
Sep 6, 2012·Thyroid : Official Journal of the American Thyroid Association·Kazuhiro OhkuboToshiro Hara
Oct 24, 2012·The Journal of Physiology·Wenzhi SunWayne N Frankel
Jan 14, 2012·Gene·Isabel FilgesBenno Röthlisberger
Dec 15, 2010·European Journal of Medical Genetics·Sonia BouquillonBruno Delobel
Jun 2, 2011·Clinical Genetics·S TopperSoma Das
May 23, 2013·American Journal of Medical Genetics. Part a·Peter H BuiFabiola Quintero-Rivera
Jun 19, 2013·Cellular Signalling·Geng-Xian ShiDouglas A Andres
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Sep 9, 2017·Oncotarget·Nicoletta CoccaroFrancesco Albano
Apr 9, 2021·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Jing WangXiaoyan Long
Apr 20, 2021·European Journal of Human Genetics : EJHG·Nadieh A JansenBregje W van Bon

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