Familial distal trisomy 8(q24.13----qter).
نویسندگان
چکیده
Trisomy for the distal part of the long arm of chromosome 8(q24.13----qter) is described in three sibs. The anomaly arose as an adjacent 1 meiotic segregation from a balanced reciprocal translocation t(1;8)(q44; q24.13)mat.
منابع مشابه
Partial trisomy 1(q42-->qter): a new case with a mild phenotype.
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.
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عنوان ژورنال:
- Journal of medical genetics
دوره 26 2 شماره
صفحات -
تاریخ انتشار 1989