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Angelman syndrome with a chromosomal inversion 15 inv(p11q13) accompanied by a deletion in 15q11q13.

A family is described in which an inversion of chromosome 15, 15 inv(p11q13), is segregating. All family members are healthy except the proband who is a 10 year old boy with Angelman syndrome. Although the chromosomal inversion has been passed from the grandfather to both his son and his daughter wi...

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Библиографические подробности
Главные авторы: Webb, T, Clayton-Smith, J, Cheng, X J, Knoll, J H, Lalande, M, Pembrey, M E, Malcolm, S
Формат: Artigo
Язык:Inglês
Опубликовано: 1992
Предметы:
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC1016215/
https://ncbi.nlm.nih.gov/pubmed/1362225
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