Person:
Biencinto López, Chantal-María

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First Name
Chantal-María
Last Name
Biencinto López
URI
https://hdl.handle.net/20.500.14352/76847
Affiliation
Universidad Complutense de Madrid
Faculty / Institute
Educación-Centro Formación Profesor
Department
Investigación y Psicología en Educación
Area
Métodos de Investigación y Diagnóstico en Educación
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Author: Hernández Estrada, Adolfo × Subject: 159.922 ×

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    Deep Phenotyping and Genetic Characterization of a Cohort of 70 Individuals With 5p Minus Syndrome
    (Frontiers in Genetics, 2021) Nevado, Julian; Bel Fenellos, María Cristina; Sandoval-Talamantes, Ana Karen; Hernández Estrada, Adolfo; Biencinto López, Chantal-María; Martínez-Fernández, María Luisa; Barrúz, Pilar; Santos-Simarro, Fernando; Mori-Álvarez, María Ángeles; Mansilla, Elena; García-Santiago, Fé Amalia; Valcorba, Isabel; Sáenz-Rico De Santiago, María Belén; Martínez-Frías, María Luisa; Lapunzina, Pablo; Sáenz-Rico De Santiago, María Belén; Julian Nevado Blanco; Katalin Komlosi, Medical Center – University of Freiburg, Germany
    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