Breakpoint delineation in 5p‐ patients leads to new insights about microcephaly and the typical high‐pitched cry

Breakpoint delineation in 5p‐ patients leads to new insights about microcephaly and the typical high‐pitched cry

Abstract Background Cri du chat syndrome (CdCS) is a rare syndrome caused by a partial or complete deletion of the short arm of chromosome 5 (5p‐). The main clinical features include a high‐pitched cry, facial asymmetry, microcephaly, round face at birth, epicanthal folds, hypotonia, delayed growth...

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Bibliographic Details
Main Authors: Samar N. Chehimi, Évelin A. Zanardo, José R. M. Ceroni, Amom M. Nascimento, Fabrícia A. R. Madia, Alexandre T. Dias, Gil M. N. Filho, Marília M. Montenegro, Jullian Damasceno, Thaís V. M. M. Costa, Yanca Gasparini, Chong A. Kim, Leslie D. Kulikowski
Format: Article
Language:English
Published: Wiley 2020-02-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
Brazilian patients
cri du chat
cytogenomic
genomic array
Online Access:https://doi.org/10.1002/mgg3.957

Internet

https://doi.org/10.1002/mgg3.957

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