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

作者：Ng Ivy S L; Chin Wai Hoe; Lim Eileen C P; Tan Ene Choo^*

来源：Twin Research and Human Genetics, 2011, 14(4): 333-339.

DOI：10.1375/twin.14.4.333

• 15q24
• developmental delay
• dysmorphism
• microdeletion
• qRT-PCR
• speech delay

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.

• 出版日期2011-8