Prader-Willi Syndrome and Chromosome 15q11.2 BP1-BP2 Region: A Review.
15q11.2 BP1-BP2 deletion
PWS molecular genetic classes
Prader–Willi syndrome (PWS)
Type II deletions
clinical findings
typical 15q11-q13 Type I
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
21 Feb 2023
21 Feb 2023
Historique:
received:
12
01
2023
revised:
13
02
2023
accepted:
17
02
2023
entrez:
11
3
2023
pubmed:
12
3
2023
medline:
15
3
2023
Statut:
epublish
Résumé
Prader-Willi syndrome (PWS) is a complex genetic disorder with three PWS molecular genetic classes and presents as severe hypotonia, failure to thrive, hypogonadism/hypogenitalism and developmental delay during infancy. Hyperphagia, obesity, learning and behavioral problems, short stature with growth and other hormone deficiencies are identified during childhood. Those with the larger 15q11-q13 Type I deletion with the absence of four non-imprinted genes (
Identifiants
pubmed: 36901699
pii: ijms24054271
doi: 10.3390/ijms24054271
pmc: PMC10002205
pii:
doi:
Substances chimiques
Carrier Proteins
0
Magnesium
I38ZP9992A
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
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