Non-disjunction Event in A Reciprocal Translocation Carrier Causing Pure Partial Trisomy 9p and 3q
Keywords:
Non-Disjunction, partial, trisomy, 9p, 3qAbstract
Partial trisomy is a common chromosomal abnormality finding in cases with dysmorphisms and intellectual disabilities, which can involve a small or large chromosome region, as long as it involves the critical region. Here we report a 6 month-old baby girl with dysmorphisms who was found to have an extra chromosome, a derivative chromosome 9, which has been inherited via non-disjunction event from her mother who is a carrier of a balanced chromosome translocation between chromosome 9 and 3. This is the first reported case involving partial trisomy 9pter until 9q13 and 3q27 until 3qter. The phenotypes of our case resemble more of partial trisomy 9p features, but the developmental milestones could not be fully assessed at the time of presentation.
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