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Article

Partial trisomy for short arm of chromosome 5.

Acta paediatrica Japonica : Overseas edition - 1 Aug 1993

Yasutomo K, Suzue T, Nishioka A, Kozan H, Sekiguchi T, Ohara K, Okamoto T, Iwai T, Endo S

Abstract excerpt

We present two unrelated cases of partial trisomy for the short arm of chromosome 5, the first such cases reported in Japan. The features are characterized by hypertelorism, low set ears, arachnodactyly, laryngostenosis, hypotonia and some cerebral malformation. The characteristic facial expression and arachnodactyly are the key features used to diagnose this disorder. A high-resolution chromosome banding...

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Identifiers

PMID: 8379327
DOI: 10.1111/j.1442-200x.1993.tb03065.x

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