Identification of a 6-month-old baby with a combination of WAGR and Potocki-Shaffer contiguous deletion syndromes by SNP array testing

Identification of a 6-month-old baby with a combination of WAGR and Potocki-Shaffer contiguous deletion syndromes by SNP array testing

Abstract WAGR 11p13 deletion syndrome is associated with abnormalities including (W) ilms tumor, (A) niridia, (G) enitourinary abnormalities, and growth and mental (R) etardation (WAGR). Potocki–Schaffer syndrome is a contiguous gene syndrome associated with deletions in 11p11.2, principal features...

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Bibliographic Details
Main Authors: Yan Meng, Jun Yang, Chan Tian, Jie Qiao
Format: Article
Language:English
Published: BMC 2020-05-01
Series:Hereditas
Subjects:
WAGR syndrome
Potocki–Schaffer syndrome
Combined deletion syndrome
11p15.1p11.2 deletion
Oligohydramnios
Online Access:http://link.springer.com/article/10.1186/s41065-020-00132-2

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http://link.springer.com/article/10.1186/s41065-020-00132-2

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