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Case Reports
. 1978 Dec 29;45(3):345-50.
doi: 10.1007/BF00278733.

Partial distal trisomy 13q resulting from familial reciprocal 5/13 translocation

S Yanagisawa, H Yokoyama, N Agena
Case Reports

Partial distal trisomy 13q resulting from familial reciprocal 5/13 translocation

S Yanagisawa et al. Hum Genet. .

Abstract

A female infant with partial trisomy 13, 46,XX,der(5),t(5;13) (p15;q22)mat, for the distal part of the long arm is reported. The clinical and autopsy findings were similar to those of complete trisomy 13, except for harelip and cleft palate, and sloping forehead. Fetal hemoglobin and nuclear appendages in polymorphonuclear leukocytes were normal. Loci for these traits are discussed.

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