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

American Journal of Medical Genetics

Volumn 126 A, Issue 1, 2004, Pages 27-32

  Collinson, Morag N ^a   Roberts, Siân E ^a   Crolla, John A ^a   Dennis, Nicholas R ^b  

^a SALISBURY DISTRICT HOSPITAL   (United Kingdom)

^b PRINCESS ANNE HOSPITAL   (United Kingdom)

Author keywords

Chromosome 15; Duplication; Insertion; PWACR

Indexed keywords

ARTICLE; CHROMOSOME 15Q; CHROMOSOME DUPLICATION; CHROMOSOME INSERTION; CLINICAL ARTICLE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HAPPY PUPPET SYNDROME; HUMAN; MALE; PARACENTRIC CHROMOSOME INVERSION; PEDIGREE; PRADER WILLI SYNDROME; PRIORITY JOURNAL; SYNDROME DELINEATION;

INSERTION SEQUENCES;

EID: 1842530055     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.26565     Document Type: Article

References (24)

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