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

Abstract

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.