De novo chromosome 7q36.1q36.2 triplication in a child with developmental delay, growth failure, distinctive facial features, and multiple congenital anomalies: a case report-Reference-Cited by-同舟云学术

De novo chromosome 7q36.1q36.2 triplication in a child with developmental delay, growth failure, distinctive facial features, and multiple congenital anomalies: a case report

Published:2017-10-23 Issue:1 Volume:18 Page:
ISSN:1471-2350
Container-title:BMC Medical Genetics
language:en
Short-container-title:BMC Med Genet

Author:

Al Dhaibani Muna A.,Allingham-Hawkins Diane,El-Hattab Ayman W.^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1186/s12881-017-0482-8.pdf

Reference15 articles.

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2. Alabdullatif MA, Al Dhaibani MA, Khassawneh MY, El-Hattab AW. Chromosomal microarray in a highly consanguineous population: diagnostic yield, utility of regions of homozygosity, and novel mutations. Clin Genet. 2017;91(4):616–22.

3. Xiang B, Zhu H, Shen Y, Miller DT, Lu K, Hu X, et al. Genome-wide oligonucleotide array comparative genomic hybridization for etiological diagnosis of mental retardation: a multicenter experience of 1499 clinical cases. J Mol Diagn. 2010;12(2):204–12.

4. Ayub S, Gadji M, Krabchi K, Côté S, Gekas J, Maranda B, et al. Three new cases of terminal deletion of the long arm of chromosome 7 and literature review to correlate genotype and phenotype manifestations. Am J Med Genet A. 2016;170A(4):896–907.

5. Wong K, Moldrich R, Hunter M, Edwards M, Finlay D, O’Donnell S, et al. A familial 7q36.3 duplication associated with agenesis of the corpus callosum. Am J Med Genet A. 2015;167A(9):2201–8.

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