Trisomy 6p Syndrome (6p+ Syndrome, 6p Duplication Syndrome) 1
General: Chromosome 6p trisomy syndrome.
Ocular: Blepharochalasis. 252h79c
Clinical: Low birth weight; psychomotor retardation; craniofacial abnormalities (prominent forehead, large fontanelle, wide sagittal suture, low-set and/or malformed ears); congenital heart malformation; small kidneys; proteinuria.
Breunin MH, Bijlmsma JB, deFrance HF. Partial trisomy 6p due to familial translocation t(6;20)(p21;q13). A new syndrome? Hum Genet 1977; 38:7-l3.
Rosi G, et al. Trisomy 6p22 leads to 6pter due to familial t(6;13) (p22; q34 or 33) translocation. Hum Genet 1979; 51:67-72.
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