Possible trisomy 1q25 leads to 1q32 in a malformed girl with a de novo insertion in 1q.
A newborn female is described who exhibited a characteristic facial dysmorphology including deep-set eyes, broad nasal bridge, small mouth, high-arched and narrow palate, severly receding mandible and misshapen ears; constant flexion of the proximal interphalangeal joints, and short distal phalanges and nails of fingers; a congenital heart defect; marked muscular hypotonia, motor and growth retardation. She died at 4 months of age. Her karyotype revealed an additional band in 1q. Banding patterns and clinical picture suggest duplication of the segment 1q25 leads to 1q32.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002871:Chromosome Banding; D002900:Chromosomes, Human, 1-3; D005145:Face / Q000002:abnormalities; D005260:Female; D005384:Finger Joint / Q000002:abnormalities; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D063173:Retrognathia / Q000235:genetics; D014314:Trisomy