Deep Phenotyping and Genetic Characterization of a Cohort of 70 Individuals With 5p Minus Syndrome
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. In...
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Published in | Frontiers in genetics Vol. 12; p. 645595 |
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Main Authors | , , , , , , , , , , , , , , |
Format | Journal Article |
Language | English |
Published |
Frontiers Media S.A
30.07.2021
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Subjects | |
Online Access | Get full text |
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Summary: | 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. |
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Bibliography: | ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 Reviewed by: Shabeesh Balan, RIKEN Center for Brain Science (CBS), Japan; Emanuela Volpi, University of Westminster, United Kingdom; Rincic Martina, University of Zagreb, Croatia Edited by: Katalin Komlosi, Medical Center – University of Freiburg, Germany This article was submitted to Human and Medical Genomics, a section of the journal Frontiers in Genetics ORCID: Julián Nevado, orcid.org/0000-0001-5611-2659; Adolfo Hernández, orcid.org/0000-0003-1078-2328; Pablo Lapunzina, orcid.org/0000-0002-6324-4825 |
ISSN: | 1664-8021 1664-8021 |
DOI: | 10.3389/fgene.2021.645595 |