ISSN:
1432-1203
Quelle:
Springer Online Journal Archives 1860-2000
Thema:
Biologie
,
Medizin
Notizen:
Summary Cytogenetic findings in a case of partial trisomy 6p due to a translocation t(6;20)(p21;p13) and eleven balanced translocation heterozygotes are described. The clinical data of the proposita are compared with those of five other published cases. A partial trisomy 6p syndrome is postulated, characterized by: low birth weight, psychomotor retardation, craniofacial abnormalities (such as high prominent forehead, large fontanel, wide sagittal suture, blepharoptosis, low-set and/or malformed ears), congenital heart malformation, small kidneys, and proteinuria. Linkage studies have shown that the breakpoint in chromosome 6 involved in this translocation is close to the HLA gene cluster.
Materialart:
Digitale Medien
URL:
http://dx.doi.org/10.1007/BF00295802
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