Partial monosomy for chromosome 22 in a patient with del(22)(pter----q13.1::q13.33----qter).

An 18 month old girl with partial monosomy for the long arm of chromosome 22 is described. The karyotype was 46,XX,del(22)(pter----q13.1::q13.33----qter). To our knowledge this is the first report of monosomy for this specific segment of chromosome 22. Clinical features include developmental delay i...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Romain, D R, Goldsmith, J, Cairney, H, Columbano-Green, L M, Smythe, R H, Parfitt, R G
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 1990
Pynciau:
Research Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC1017223/
https://ncbi.nlm.nih.gov/pubmed/2231653
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