Partial trisomy 1(q42-->qter): a new case with a mild phenotype.
نویسندگان
چکیده
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.
منابع مشابه
Partial trisomy 2q(2q37.3-->qter) and monosomy 7q(7q34--->qter) due to paternal reciprocal translocation 2;7: a case report.
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عنوان ژورنال:
- Journal of medical genetics
دوره 35 1 شماره
صفحات -
تاریخ انتشار 1998