Unbalanced translocation involving partial trisomy 9p and partial monosomy yq with neurodevelopmental delays.

We present a 4-year-old Honduran boy with mild neurodevelopmental delays, growth delays, dysmorphic features, and small genitalia. Chromosome analysis initially revealed a single X chromosome and a marker chromosome derived from the short arm of chromosome 9 which was consistent with Turner syndrome as only 1 sex chromosome could be identified. However, on further analysis, he was found to have an unbalanced translocation involving the short arm of chromosome 9 and the long arm of the Y chromosome.