Atypical 15q11.2-q13 Deletions and the Prader-Willi Phenotype

Background: Prader-Willi syndrome (PWS) is a rare genetic disorder resulting from the lack of expression of the PWS region (locus q11-q13) on the paternally derived chromosome 15, as a result of a type I or II paternal deletion (50%), maternal uniparental disomy (43%), imprinting defect (4%) or tran...

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Bibliographic Details
Published in:Journal of clinical medicine 2022-08, Vol.11 (15), p.4636
Main Authors: Grootjen, Lionne N, Juriaans, Alicia F, Kerkhof, Gerthe F, Hokken-Koelega, Anita C S
Format: Article
Language:English
Subjects:
Age
Behavior
Birth weight
Body mass index
Chromosomes
Clinical medicine
Cryptorchidism
DNA methylation
Enteral nutrition
Genes
Genetic testing
Genotype & phenotype
Growth hormones
Intelligence
Patients
Strabismus
Testosterone
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Summary:Background: Prader-Willi syndrome (PWS) is a rare genetic disorder resulting from the lack of expression of the PWS region (locus q11-q13) on the paternally derived chromosome 15, as a result of a type I or II paternal deletion (50%), maternal uniparental disomy (43%), imprinting defect (4%) or translocation (
ISSN:2077-0383
2077-0383
DOI:10.3390/jcm11154636