Partial trisomy 6p due to familial translocation t(6;20)(p21;p13). A new syndrome?
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.
D000015:Abnormalities, Multiple / Q000235:genetics; D001724:Birth Weight; D002675:Child, Preschool; D002901:Chromosomes, Human, 13-15; D002903:Chromosomes, Human, 19-20; D002904:Chromosomes, Human, 21-22 and Y; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D008040:Genetic Linkage; D006330:Heart Defects, Congenital / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D007668:Kidney / Q000002:abnormalities; D010375:Pedigree; D011507:Proteinuria / Q000235:genetics; D011596:Psychomotor Disorders / Q000235:genetics; D014178:Translocation, Genetic; D014314:Trisomy