WILSON, DI and CROSS, IE and GOODSHIP, JA and BROWN, J and SCAMBLER, PJ and BAIN, HH and TAYLOR, JFN and WALSH, K and BANKIER, A and BURN, J and WOLSTENHOLME, J (1992) A PROSPECTIVE CYTOGENETIC STUDY OF 36 CASES OF DIGEORGE SYNDROME. AM J HUM GENET , 51 (5) 957 - 963.
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Abstract
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.
| Type: | Article |
|---|---|
| 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 |
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