Summary
A malformed female infant having karyotype 46,XX,der(17), t(17;19) (q25.3;q13.3)pat is reported. She had following abnormalities: low birth weight, congenital heart disease, microcephaly, high frontal hairline, short nose with flat nasal root, cleft lip and palate, broad mouth with downturned commissures, short neck with excess skin, clinodactyly of 5th fingers, sacral dimple, wide set nipples, and unilateral palmar transverse crease. Autopsy revealed congenital heart disease and polysplenia, but no abnormality was found in other organs. Her sister was stillborn, with cleft lip and palate. Our case suggests that fatality due to severely malformed internal organs may occur in duplication at the distal third of 19q.
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References
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Madokoro, H., Ohdo, S., Sonoda, T. et al. Partial trisomy for 19q due to paternal 17/19 reciprocal translocation. Jap J Human Genet 33, 61–65 (1988). https://doi.org/10.1007/BF01891241
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DOI: https://doi.org/10.1007/BF01891241
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