%0 Journal Article
%A Nevado, Julian
%A Bel Fenellos, María Cristina
%A Sandoval-Talamantes, Ana Karen
%A Hernández Estrada, Adolfo
%A Biencinto López, Chantal-María
%A Martínez-Fernández, María Luisa
%A Barrúz, Pilar
%A Santos-Simarro, Fernando
%A Mori-Álvarez, María Ángeles
%A Mansilla, Elena
%A García-Santiago, Fé Amalia
%A Valcorba, Isabel
%A Sáenz-Rico De Santiago, María Belén
%A Martínez-Frías, María Luisa
%A Lapunzina, Pablo
%T Deep Phenotyping and Genetic Characterization of a Cohort of 70 Individuals With 5p Minus Syndrome
%D 2021
%@ 1664-8021
%U https://hdl.handle.net/20.500.14352/100143
%X Chromosome-5p minus syndrome (5p-Sd, OMIM #123450) formerly known as Cri duChat 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 andfemale individuals
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