Prenatal diagnosis and neonatal phenotype of a de novo microdeletion of 17p11.2p12 associated with Smith‒Magenis syndrome and external genital defects-Reference-Cited by-同舟云学术

Prenatal diagnosis and neonatal phenotype of a de novo microdeletion of 17p11.2p12 associated with Smith‒Magenis syndrome and external genital defects

Published:2020-06-04 Issue:1 Volume:99 Page:
ISSN:0022-1333
Container-title:Journal of Genetics
language:en
Short-container-title:J Genet

Author:

Zhang Pingping,Sun Yanmei,Tian Haishen,Rong Limin,Wang Fangna,Yu Xiaoping,Li Yali^ORCID,Gao Jian^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

https://link.springer.com/content/pdf/10.1007/s12041-020-01213-x.pdf

Reference24 articles.

1. Andrieux J., Villenet C., Quief S., Lignon S., Geffroy S. and Roumier C. et al. 2007 Genotype–phenotype correlation of 30 patients with Smith–Magenis syndrome (SMS) using comparative genome hybridisation array: cleft palate in SMS is associated with larger deletions. J. Med. Genet. 44, 537–540.

2. Bi W., Park S. S., Shaw C. J., Withers M. A., Patel P. I. and Lupski J. R. 2003 Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11. 2. Am. J. Hum. Genet. 73, 1302–1315.

3. Bi W., Saifi G. M., Girirajan S., Shi X., Szomju B. and Firth H. et al. 2006 RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith–Magenis syndrome. Am. J. Med. Genet. A. 140A, 2454–2463.

4. Cunha G. R. and Baskin L. S. 2019 Development of the external genitalia. Differentiation. 112, 7–9.

5. Dolle P., Izpisua-Belmonte J. C., Brown J. M., Tickle C. and Duboule D. 1991 HOX-4 genes and the morphogenesis of mammalian genitalia. Genes Dev. 5, 1767–1767.

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