Prenatal diagnosis of de novo int22h1/int22h2-mediated Xq28 duplication syndrome involving RAB39B following a previous ambiguous genitalia pregnancy

Author:

Chien Yung Chen,Chen Jia Shing,Shiao Yu Ming,Hsiao Ching Hua

Publisher

Elsevier BV

Subject

Obstetrics and Gynecology

Reference10 articles.

1. Fragile X and X-linked intellectual disability: four decades of discovery;Lubs;Am J Hum Genet,2012

2. A sibship with duplication of Xq28 inherited from the mother; genomic characterization and clinical outcomes;Yon;BMC Med Genet,2017

3. Xq28 duplication overlapping the int22h-1/int22h-2 region and including RAB39B and CLIC2 in a family with intellectual and developmental disability;Andersen;Am J Med Genet Part A,2014

4. Clinical impacts of genomic copy number gains at Xq28;Yamamoto;Hum Genome Var,2014

5. Xq28 duplication syndrome, int22h1/int22h2 mediated. 2016 mar 10;El-Hattab,1993

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