Dominant transmission of a previously unidentified 13/17 translocation in a five-generation family with Robin Cleft and other skeletal defects [1]

American Journal of Medical Genetics

Volumn 103, Issue 4, 2001, Pages 339-341

  Stalker, Heather J ^a,b   Gray, Brian A ^a   Zori, Roberto T ^a  

^a PHILIPS RESEARCH LABORATORIES   (Netherlands)

^b UNIVERSITY OF FLORIDA COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CASE REPORT; CHROMOSOME TRANSLOCATION 13; CHROMOSOME TRANSLOCATION 17; CLEFT PALATE; DANDY WALKER SYNDROME; DISEASE TRANSMISSION; DOMINANT INHERITANCE; DUODENUM ATRESIA; ENCEPHALOCELE; FEMALE; HEART ATRIUM SEPTUM DEFECT; HEART VENTRICLE SEPTUM DEFECT; HUMAN; KARYOTYPE; KIDNEY DYSPLASIA; LETTER; NECK CYST; NEWBORN; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SKELETON MALFORMATION;

CHROMOSOMES, HUMAN, PAIR 13; CHROMOSOMES, HUMAN, PAIR 17; CLEFT PALATE; COLLAGEN TYPE II; FEMALE; FUNNEL CHEST; GENES, DOMINANT; HUMANS; KARYOTYPING; MALE; PEDIGREE; PIERRE ROBIN SYNDROME; RIBS; SCAPULA; TRANSLOCATION, GENETIC; TRISOMY;

EID: 0035500596     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.1559     Document Type: Letter

References (2)

1. Variable expression of rib, pectus and scapular anomalies with Robin-type cleft palate in a 5 generation family: A new syndrome?
2. Genetic and clinical heterogeneity of Stickler syndrome