Summary
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 duplication of the segment 1q25→1q32.
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References
Garver, K. L., Ciocco, A. M., Turack, N. A.: Partial monosomy or trisomy resulting from crossing over within a rearranged chromosome 1. Clin. Genet. 10, 319–324 (1976)
Palmer, C. G., Christian, J. C., Merritt, A. D.: Partial trisomy 1 due to a “shift” and probable location of the Duffy (fy) locus. Am. J. Hum. Genet. 29, 371–377 (1977)
Pan, S. F., Fatora, S. R., Sorg, R., Garver, K. L., Steele, M. W.: Meiotic consequences of an intrachromosomal insertion of chromosome No. 1: a family pedigree. Clin. Genet. 12, 303–316 (1977)
Paris Conference (1971), Supplement (1975): Standardization in human cytogenetics. In: Birth defects: Original article series, XI, 9. New York: The National Foundation 1975
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Schinzel, A. Possible trisomy 1q25→1q32 in a malformed girl with a de novo insertion in 1q. Hum Genet 49, 167–173 (1979). https://doi.org/10.1007/BF00277638
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DOI: https://doi.org/10.1007/BF00277638