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Chromosomal Microarray Study in Prader-Willi Syndrome

Butler, Merlin G ; Hossain, Waheeda A ; Cowen, Neil ; Bhatnagar, Anish

International journal of molecular sciences, 2023-01, Vol.24 (2), p.1220 [Revista revisada por pares]

Switzerland: MDPI AG

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Título:
Chromosomal Microarray Study in Prader-Willi Syndrome
Autor: Butler, Merlin G ; Hossain, Waheeda A ; Cowen, Neil ; Bhatnagar, Anish
Materias: atypical PWS genetic findings ; Chromosomes ; Chromosomes, Human, Pair 15 - genetics ; Cognition & reasoning ; Family ; Females ; Genetic counseling ; Genetic disorders ; Genetic testing ; High resolution ; high-resolution chromosomal microarray ; Humans ; Imprinting ; Klinefelter's syndrome ; Male ; Males ; maternal disomy 15 subclasses ; Microarray Analysis ; Prader-Willi syndrome ; Prader-Willi syndrome (PWS) ; Prader-Willi Syndrome - genetics ; PWS molecular genetic classes ; Self destructive behavior ; typical 15q11-q13 deletion subtypes ; X chromosomes
Es parte de: International journal of molecular sciences, 2023-01, Vol.24 (2), p.1220
Notas: ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
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Descripción: A high-resolution chromosome microarray analysis was performed on 154 consecutive individuals enrolled in the DESTINY PWS clinical trial for Prader-Willi syndrome (PWS). Of these 154 PWS individuals, 87 (56.5%) showed the typical 15q11-q13 deletion subtypes, 62 (40.3%) showed non-deletion maternal disomy 15 and five individuals (3.2%) had separate unexpected microarray findings. For example, one PWS male had Klinefelter syndrome with segmental isodisomy identified in both chromosomes 15 and X. Thirty-five (40.2%) of 87 individuals showed typical larger 15q11-q13 Type I deletion and 52 individuals (59.8%) showed typical smaller Type II deletion. Twenty-four (38.7%) of 62 PWS individuals showed microarray patterns indicating either maternal heterodisomy 15 subclass or a rare non-deletion (epimutation) imprinting center defect. Segmental isodisomy 15 was seen in 34 PWS subjects (54.8%) with 15q26.3, 15q14 and 15q26.1 bands most commonly involved and total isodisomy 15 seen in four individuals (6.5%). In summary, we report on PWS participants consecutively enrolled internationally in a single clinical trial with high-resolution chromosome microarray analysis to determine and describe an unbiased estimate of the frequencies and types of genetic defects and address potential at-risk genetic disorders in those with maternal disomy 15 subclasses in the largest PWS cohort studied to date.
Editor: Switzerland: MDPI AG
Idioma: Inglés

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Chromosomal Microarray Study in Prader-Willi Syndrome

Butler, Merlin G ; Hossain, Waheeda A ; Cowen, Neil ; Bhatnagar, Anish

Switzerland: MDPI AG

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