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

ConclusionWith advancements of molecular cytogenomic methods in the last two decades, it was possible to evidence cryptic alterations and improve the genotype –phenotype correlation. In this work, we describe a new genomic region associated with microcephaly and cat‐like cry and highlight the importance of precise delineation of 5p deletion breakpoints and detection of other CNVs in CdCS patients to improve genotype–phenotype correlation to perform a complete clinical and molecular diagnosis.

Source: Molecular Genetics & Genomic Medicine - September 29, 2019 Category: Genetics & Stem Cells 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. Tags: ORIGINAL ARTICLE Source Type: research