Partial trisomy 22 (q11.2-q13.1) as a result of duplication and pericentric inversion.

A case of a 27 year old male with a duplication of part of the long arm of chromosome 22 (22q11.2-q13.1) together with a pericentric inversion of the same chromosome is reported. Particular phenotypic features of note include absence of speech, persistent self-injury, lack of daily living skills, co...

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Hlavní autoři: Prasher, V P, Roberts, E, Norman, A, Butler, A C, Krishnan, V H, McMullan, D J
Médium: Artigo
Jazyk:Inglês
Vydáno: 1995
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1050382/
https://ncbi.nlm.nih.gov/pubmed/7643363
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