Partial monosomy 3q in a boy with short stature, developmental delay, and mild dysmorphic features
- PMID: 2479748
- PMCID: PMC1015744
- DOI: 10.1136/jmg.26.11.729
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.
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