Literature DB >> 21787116

An additional case of the recurrent 15q24.1 microdeletion syndrome and review of the literature.

Ivy S L Ng1, Wai-Hoe Chin, Eileen C P Lim, Ene-Choo Tan.   

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.

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Year:  2011        PMID: 21787116     DOI: 10.1375/twin.14.4.333

Source DB:  PubMed          Journal:  Twin Res Hum Genet        ISSN: 1832-4274            Impact factor:   1.587


  2 in total

1.  An inferential study of the phenotype for the chromosome 15q24 microdeletion syndrome: a bootstrap analysis.

Authors:  Antonio Palazón-Bru; Dolores Ramírez-Prado; Ernesto Cortés; María Soledad Aguilar-Segura; Vicente Francisco Gil-Guillén
Journal:  PeerJ       Date:  2016-02-04       Impact factor: 2.984

Review 2.  Coexistence of urogenital malformations in a female fetus with de novo 15q24 microdeletion and a literature review.

Authors:  Yaobin Liu; Beth Mapow
Journal:  Mol Genet Genomic Med       Date:  2020-05-13       Impact factor: 2.183

  2 in total

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