Partial trisomy 1(q42-->qter): a new case with a mild phenotype.
case_report · Level V
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- Record sourced from PubMed, PMID 9475102.
- Also identified by PMC identifier 1051194.
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Abstract
We report a female patient with a 46,XX,der(8)t(1;8)(q42.1;p23.3) karyotype who had a mild phenotype characterised by a few subtle dysmorphic features and mild developmental retardation, probably resulting from trisomy 1q42-->qter. The deletion on the short arm of the chromosome 8 appeared to be confined to the distal chromosomal segment.
Medical subject headings
- Chromosomes, Human, Pair 1
- Craniofacial Abnormalities
- Developmental Disabilities
- Trisomy