Publication: Possible trisomy 1q25→1q32 in a malformed girl with a de novo insertion in 1q
Possible trisomy 1q25→1q32 in a malformed girl with a de novo insertion in 1q
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Schinzel, A. (1979). Possible trisomy 1q25→1q32 in a malformed girl with a de novo insertion in 1q. Human Genetics, 49, 167–173. https://doi.org/10.1007/bf00277638
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A newborn female is described who exhibited a characteristic facial dysmorphology including deep-set eyes, broad nasal bridge, small mouth, higharched and narrow palate, severely 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 duplicati
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- Schinzel, Albert
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Citations
Schinzel, A. (1979). Possible trisomy 1q25→1q32 in a malformed girl with a de novo insertion in 1q. Human Genetics, 49, 167–173. https://doi.org/10.1007/bf00277638
