A familial balanced inverted insertion ins(15)(q15q13q11.2) producing Prader-Willi syndrome, Angelman syndrome and duplication of 15q11.2-q13 in a single family: Importance of differentiation from a paracentric inversion.

Collinson, Morag N; Roberts, Siân E; Crolla, John A; Dennis, Nicholas R

Collinson, Morag N; Roberts, Siân E; Crolla, John A; Dennis, Nicholas R.

Affiliation

Collinson MN; Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wilts, United Kingdom. wessex.genetics@salisbury.nhs.uk

Am J Med Genet A ; 126A(1): 27-32, 2004 Apr 01.

Article in En | MEDLINE | ID: mdl-15039970

Subject(s)

Angelman Syndrome/genetics; Chromosome Aberrations; Chromosome Inversion; Chromosomes, Human, Pair 15; Gene Duplication; Prader-Willi Syndrome/genetics; Adolescent; Adult; Chromosome Banding; Chromosome Segregation; DNA/chemistry; DNA/genetics; DNA Probes; Female; Gene Rearrangement; Humans; In Situ Hybridization, Fluorescence; Karyotyping; Male; Pedigree

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Collection: 01-internacional Database: MEDLINE Main subject: Prader-Willi Syndrome / Chromosomes, Human, Pair 15 / Chromosome Aberrations / Angelman Syndrome / Gene Duplication / Chromosome Inversion Limits: Adolescent / Adult / Female / Humans / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2004 Type: Article Affiliation country: United kingdom

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