Please use this identifier to cite or link to this item: https://doi.org/10.1375/twin.14.4.333
Title: An additional case of the recurrent 15q24.1 microdeletion syndrome and review of the literature
Authors: Ng, I.S.L.
Chin, W.-H.
Lim, E.C.P.
Tan, E.-C. 
Keywords: 15q24
Developmental delay
Dysmorphism
Microdeletion
qRT-PCR
Speech delay
Issue Date: 2011
Citation: Ng, I.S.L., Chin, W.-H., Lim, E.C.P., Tan, E.-C. (2011). An additional case of the recurrent 15q24.1 microdeletion syndrome and review of the literature. Twin Research and Human Genetics 14 (4) : 333-339. ScholarBank@NUS Repository. https://doi.org/10.1375/twin.14.4.333
Abstract: 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.
Source Title: Twin Research and Human Genetics
URI: http://scholarbank.nus.edu.sg/handle/10635/109169
ISSN: 18324274
DOI: 10.1375/twin.14.4.333
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