Partial monosomy 3q in a boy with short stature, developmental delay, and mild dysmorphic features.

AUTOR(ES)

Brueton, L A

RESUMO

We describe the clinical and cytogenetic findings in a boy with an unbalanced karyotype involving monosomy for 3q27-q29. He does not resemble other reported cases of del(3q). Deletions of the long arm of chromosome 3 are extremely rare, having been reported in five cases, only two of which had terminal 3q deletions.

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