WILSON, DI; CROSS, IE; GOODSHIP, JA; BROWN, J; SCAMBLER, PJ; BAIN, HH; ... WOLSTENHOLME, J; + view all WILSON, DI; CROSS, IE; GOODSHIP, JA; BROWN, J; SCAMBLER, PJ; BAIN, HH; TAYLOR, JFN; WALSH, K; BANKIER, A; BURN, J; WOLSTENHOLME, J; - view fewer (1992) A PROSPECTIVE CYTOGENETIC STUDY OF 36 CASES OF DIGEORGE SYNDROME. AM J HUM GENET , 51 (5) 957 - 963.
Full text not available from this repository.
Cytogenetic analysis was carried out in a prospective series of 36 children with DiGeorge syndrome. High-resolution banding (>850 bands/haploid set) was achieved in 30 cases. Monosomy 22q11.21-->q11.23 was found in 9 of these 30 cases. In each of these cases monosomy 22q11.21-->q11.23 resulted from an interstitial deletion and not from a translocation. No other chromosome abnormalities were seen.
|Title:||A PROSPECTIVE CYTOGENETIC STUDY OF 36 CASES OF DIGEORGE SYNDROME|
|Keywords:||PARTIAL MONOSOMY, CHROMOSOME 22, 10P DELETION, CHILD, TRANSLOCATION, PATIENT, INFANT, DEFECT|
|UCL classification:||UCL > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Child Health > Department of Genes, Development and Disease > ICH - Molecular Medicine Unit|
Archive Staff Only: edit this record