Partial trisomy of chromosome 22 resulting from an interstitial duplication of 22q11.2 in a child with typical cat eye syndrome.

Journal of medical genetics

Volumn 40, Issue 5, 2003, Pages

  Meins, M ^a   Burfeind, P ^a   Motsch, S ^a   Trappe, R ^a   Bartmus, D ^a   Langer, S ^a   Speicher, M R ^a   Muhlendyck H ^a   Bartels, I ^a   Zoll, B ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

CASE REPORT; CHROMOSOME 22; EYE MALFORMATION; GENE DUPLICATION; GENETICS; HUMAN; INFANT; LETTER; MALE; MULTIPLE MALFORMATION SYNDROME; NEWBORN; PATHOLOGY; PHENOTYPE; SYNDROME; TRISOMY;

ABNORMALITIES, MULTIPLE; CHROMOSOMES, HUMAN, PAIR 22; EYE ABNORMALITIES; GENE DUPLICATION; HUMANS; INFANT; INFANT, NEWBORN; MALE; PHENOTYPE; SYNDROME; TRISOMY;

EID: 0042779682     PISSN: 14686244     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Letter

References (15)