AUTHOR=Nevado Julián , Bel-Fenellós Cristina , Sandoval-Talamantes Ana Karen , Hernández Adolfo , Biencinto-López Chantal , Martínez-Fernández María Luisa , Barrúz Pilar , Santos-Simarro Fernando , Mori-Álvarez María Ángeles , Mansilla Elena , García-Santiago Fé Amalia , Valcorba Isabel , Sáenz-Rico Belén , Martínez-Frías María Luisa , Lapunzina Pablo TITLE=Deep Phenotyping and Genetic Characterization of a Cohort of 70 Individuals With 5p Minus Syndrome JOURNAL=Frontiers in Genetics VOLUME=12 YEAR=2021 URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2021.645595 DOI=10.3389/fgene.2021.645595 ISSN=1664-8021 ABSTRACT=

Chromosome-5p minus syndrome (5p-Sd, OMIM #123450) formerly known as Cri du Chat syndrome results from the loss of genetic material at the distal region of the short arm of chromosome 5. It is a neurodevelopmental disorder of genetic cause. So far, about 400 patients have been reported worldwide. Individuals affected by this syndrome have large phenotypic heterogeneity. However, a specific phenotype has emerged including global developmental delay, microcephaly, delayed speech, some dysmorphic features, and a characteristic and monochromatic high-pitch voice, resembling a cat’s cry. We here describe a cohort of 70 patients with clinical features of 5p- Sd characterized by means of deep phenotyping, SNP arrays, and other genetic approaches. Individuals have a great clinical and molecular heterogeneity, which can be partially explained by the existence of additional significant genomic rearrangements in around 39% of cases. Thus, our data showed significant statistical differences between subpopulations (simple 5p deletions versus 5p deletions plus additional rearrangements) of the cohort. We also determined significant “functional” differences between male and female individuals.