Partial monosomy 8p with minimal dysmorphic signs.
نویسندگان
چکیده
A female patient with a 46,XX,del(8)(p23----pter) karyotype is presented. She was mentally retarded and showed a few dysmorphic features. Her red cell glutathione reductase level was within normal limits. This terminal deletion, on the short arm of chromosome 8, appears to be the smallest segment hitherto reported.
منابع مشابه
Partial monosomy 8p and trisomy 16q in two children with developmental delay detected by array comparative genomic hybridization
Two cases of liveborn unrelated children with developmental delay and overlapping unbalanced translocations der(8)t(8;16)(p23.2;q23.3) and der (8)t(8;16)(p23.1;q23.1), leading to partial monosomy 8p and partial trisomy 16q, are reported in the present study. The first patient was a 10‑year‑old boy with mild developmental delay and minor congenital anomalies (borderline microcephaly, clinodactyl...
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عنوان ژورنال:
- Journal of medical genetics
دوره 27 5 شماره
صفحات -
تاریخ انتشار 1990