Prader-Willi syndrome with a karyotype 47,XY,+min(15)(pter->q11.1:) and maternal UPD 15 - Case report plus review of similar cases

European Journal of Medical Genetics

Volumn 48, Issue 2, 2005, Pages 175-181

  Liehr, Thomas ^a,d   Brude, Elke ^b   Gillessen Kaesbach, Gabriele ^c   König, Rainer ^b   Mrasek, Kristin ^a   Von Eggeling, Ferdinand ^a   Starke, Heike ^a  

^a Institute of Human Genetics and Anthropology   (Germany)

^b Institute of Human Genetics   (Germany)

^c UNIVERSITY HOSPITAL ESSEN   (Germany)

^d Institut fur Humangenetik und Anthroplogie   (Germany)

Author keywords

Angelman syndrome (AS); Microdeletion; Prader Willi syndrome (PWS); Small supernumerary marker chromosome (sSMC); Uniparental disomy (UPD) 15

Indexed keywords

CASE REPORT; CHROMOSOME 15Q; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; GENE MUTATION; HAPPY PUPPET SYNDROME; HUMAN; INFANT; KARYOTYPE; KARYOTYPE 47,XY; MALE; MOTHER; PRADER WILLI SYNDROME; PRENATAL PERIOD; REVIEW; SUPERNUMERARY CHROMOSOME; UNIPARENTAL DISOMY;

EID: 18844410816     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2005.01.004     Document Type: Article

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