First patient with trisomy 21 accompanied by an additional der(4)(:p11 → q11:) plus partial uniparental disomy 4p15-16

American Journal of Medical Genetics

Volumn 116, Issue 1, 2003, Pages 26-30

  Starke, Heike ^a   Mitulla, Beate ^b   Nietzel, Angela ^a   Heller, Anita ^a   Beensen, Volkmar ^a   Grosswendt, Gisela ^a   Claussen, Uwe ^a   Von Eggeling, Ferdinand ^a   Liehr, Thomas ^a  

^a Institut fur Humangenetik und Anthroplogie   (Germany)

^b Central Clinic South Thuringia   (Germany)

Author keywords

Centromere specific multicolor FISH; Down syndrome; Supernumerary marker chromosome; Uniparental disomy

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 21; CHROMOSOME 4P; DOWN SYNDROME; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; INFANT; MALE; MARKER CHROMOSOME; MICROSATELLITE MARKER; PRIORITY JOURNAL; TRISOMY 21; UNIPARENTAL DISOMY;

EID: 12244283127     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.10830     Document Type: Article

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