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An Additional Case of the Recurrent 15q24.1 Microdeletion Syndrome and Review of the Literature

Published online by Cambridge University Press:  21 February 2012

Ivy S. L. Ng
Affiliation:
Genetics Service, KK Women's and Children's Hospital, Singapore.
Wai-Hoe Chin
Affiliation:
KK Research Centre, KK Women's and Children's Hospital, Singapore.
Eileen C. P. Lim
Affiliation:
KK Research Centre, KK Women's and Children's Hospital, Singapore.
Ene-Choo Tan*
Affiliation:
KK Research Centre, KK Women's and Children's Hospital, Singapore;Department of Psychological Medicine, Yong Loo Lin School of Medicine, National University of Singapore, Singapore. tanec@bigfoot.com
*
*ADDRESS FOR CORRESPONDENCE: Ene-Choo Tan, KK Research Centre, KK Women's and Children's Hospital, 100 Bukit Timah Road, Singapore, 229899.

Abstract

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We report a 9-year-old girl with 3 Mb interstitial deletion of chromosome 15q24 identified by oligonucleotide array comparative hybridization. She is of Chinese ancestry and shared some typical features of previously reported 15q24 deletion cases such as mild dysmorphism with developmental and speech delay. She also had mild hearing loss that was reported in one other case. We compared all 19 cases that are identified from array-CGH. The deletion occurred within an 8.3 Mb region from 15q23 to 15q24.3. The minimum overlapping deleted region is less than 0.5 Mb from 72.3 Mb to 72.7 Mb. The functions of the nine annotated genes within the region and how they might contribute to the microdeletion phenotype are discussed.

Type
Articles
Copyright
Copyright © Cambridge University Press 2011