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A prospective cytogenetic study of 36 cases of DiGeorge syndrome.
Wilson, D I; Cross, I E; Goodship, J A; Brown, J; Scambler, P J; Bain, H H; Taylor, J F; Walsh, K; Bankier, A; Burn, J.
Affiliation
  • Wilson DI; Division of Human Genetics, University of Newcastle upon Tyne, U.K.
Am J Hum Genet ; 51(5): 957-63, 1992 Nov.
Article in En | MEDLINE | ID: mdl-1415264
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.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Chromosomes, Human, Pair 22 / Chromosome Deletion / DiGeorge Syndrome / Monosomy Type of study: Observational_studies Limits: Child / Child, preschool / Female / Humans / Male Language: En Journal: Am J Hum Genet Year: 1992 Document type: Article Country of publication:
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Chromosomes, Human, Pair 22 / Chromosome Deletion / DiGeorge Syndrome / Monosomy Type of study: Observational_studies Limits: Child / Child, preschool / Female / Humans / Male Language: En Journal: Am J Hum Genet Year: 1992 Document type: Article Country of publication: