Robertsonian (15q;15q) Translocation in a Child with Angelman Syndrome: Evidence of Uniparental Disomy

American Journal of Medical Genetics - Seminars in Medical Genetics

Volumn 66, Issue 4, 1996, Pages 426-428

  Tonk, Vijay ^a   Schultz, Roger A ^a,b   Christian, Susan L ^c   Kubota, Takeo ^c   Ledbetter, David H ^c   Wilson, Golder N ^a  

^a UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^b UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^c NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

Author keywords

Angelman syndrome; Chromosome 15 translocations; Paternal uniparental disomy; Prader Willi syndrome; Robertsonian translocation 15q15q

Indexed keywords

ROBERTSONIA;

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 15Q; CHROMOSOME TRANSLOCATION 15; HAPPY PUPPET SYNDROME; HUMAN; MALE; MENTAL DEFICIENCY; MICROCEPHALY; MUSCLE HYPERTONIA; PATERNITY; PRIORITY JOURNAL; ROBERTSONIAN CHROMOSOME TRANSLOCATION; UNIPARENTAL DISOMY;

ANGELMAN SYNDROME; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 15; HUMANS; KARYOTYPING; MALE; MICROSATELLITE REPEATS; TRANSLOCATION, GENETIC;

EID: 0030458267     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19961230)66:4<426::AID-AJMG7>3.0.CO;2-I     Document Type: Article

References (8)

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7. Malcolm S, Smith-Clayton J, Nichols M, Robb S, Webb T, Armour JAL, Jeffreys AJ, Pembrey ME (1991): Uniparental paternal disomy in Angelman's syndrome Lancet 337:694-697.
8. Mutirangura A, Greenberg F, Butler MG, Malcolm S, Nicholls RD, Chakravarti A, Ledbetter DH (1993): Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-q13): Molecular diagnosis and mechanism of uniparental disomy. Hum Molec Genet 2:143-151.