Partial trisomy 1(q42-->qter): a new case with a mild phenotype.
- 1 January 1998
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 35 (1) , 75-77
- https://doi.org/10.1136/jmg.35.1.75
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.Keywords
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