Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus

The Lancet

Volumn 339, Issue 8802, 1992, Pages 1138-1139

  Scambler, P J ^a   Kelly, D ^a   Lindsay, E ^a   Williamson, R ^a   Goldberg, R ^b   Shprintzen, R ^b   Wilson, D I ^c   Goodship, J A ^c   Cross, I E ^c   Burn, J ^c  

^a IMPERIAL COLLEGE LONDON   (United Kingdom)

^b MONTEFIORE MEDICAL CENTER   (United States)

^c NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME 22; CHROMOSOME DELETION; CLEFT PALATE; COGNITIVE DEFECT; CONGENITAL DISORDER; DIGEORGE SYNDROME; FACE; MONOSOMY; PRIORITY JOURNAL;

ABNORMALITIES, MULTIPLE; CAUSALITY; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 22; CLEFT PALATE; COGNITION DISORDERS; DIGEORGE SYNDROME; DNA PROBES; FACE; HAPLOTYPES; HEART DEFECTS, CONGENITAL; HETEROZYGOTE DETECTION; HUMAN; KARYOTYPING; SUPPORT, NON-U.S. GOV'T;

EID: 0026511084     PISSN: 01406736     EISSN: None     Source Type: Journal    
DOI: 10.1016/0140-6736(92)90734-K     Document Type: Article

References (10)

1. Velo-cardio-facial syndrome
2. Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome
3. DiGeorge anomaly and velocardiofacial syndrome
4. Localisation of 27 DNA markers to the region of human chromosome 22q11-pter deleted in patients with the DiGeorge syndrome and duplicated in the der22 syndrome
5. High resolution mapping of human chromosome 11 by in situ hybridisation with cosmid clones
6. DiGeorge sequence, isolated aortic coarctation and isolated ventricular septal defect in three sibs with a 22q11 deletion of maternal origin