2026-07-24T06:21:30Zhttps://repisalud.isciii.es/rest/oai/request

oai:repisalud.isciii.es:20.500.12105/133192025-06-17T09:47:50Zcom_20.500.12105_15322com_20.500.12105_2051com_20.500.12105_2052col_20.500.12105_16963col_20.500.12105_19616

00925njm 22002777a 4500 dc Nevado, Julián author Bel-Fenellós, Cristina author Sandoval-Talamantes, Ana Karen author Hernández, Adolfo author Biencinto-López, Chantal author Martinez-Fernandez, Maria Luisa author Barrúz, Pilar author Santos-Simarro, Fernando author Mori-Álvarez, María Ángeles author Mansilla, Elena author García-Santiago, Fé Amalia author Valcorba, Isabel author Sáenz-Rico, Belén author Lapunzina, Pablo author Martínez-Frías, María Luisa author 2021 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. Front Genet . 2021;12:645595. 10.3389/fgene.2021.645595 1664-8021 Frontiers in genetics 34394178 http://hdl.handle.net/20.500.12105/13319 5p-minus syndrome Intellectual disabilities Cri du chat Subtelomeric deletion Behavior problems Deep Phenotyping and Genetic Characterization of a Cohort of 70 Individuals With 5p Minus Syndrome