Coffin‐Lowry syndrome in a girl with 46,XX,t(X;11)(p22;p15)dn: Identification of RPS6KA3 disruption by whole genome sequencing

Coffin‐Lowry syndrome in a girl with 46,XX,t(X;11)(p22;p15)dn: Identification of RPS6KA3 disruption by whole genome sequencing

Abstract We report a Japanese girl with Coffin‐Lowry syndrome phenotype such as hypertelorism, hypodontia, and tapering fingers and 46,XX,t(X;11)(p22;p15)dn. Whole genome sequencing revealed RPS6KA3 disruption by the translocation, and X‐inactivation analysis indicated preferential inactivation of t...

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Bibliographic Details
Main Authors: Kaori Yamoto, Hirotomo Saitsu, Yasuko Fujisawa, Fumiko Kato, Keiko Matsubara, Maki Fukami, Masayo Kagami, Tsutomu Ogata
Format: Article
Language:English
Published: Wiley 2020-06-01
Series:Clinical Case Reports
Subjects:
Coffin‐Lowry syndrome
RPS6KA3
translocation
whole genome sequencing
Online Access:https://doi.org/10.1002/ccr3.2826

Internet

https://doi.org/10.1002/ccr3.2826

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