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

โœ Scribed by S. Yanagisawa; H. Yokoyama; N. Agena

Publisher
Springer
Year
1978
Tongue
English
Weight
469 KB
Volume
45
Category
Article
ISSN
0340-6717

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โœฆ Synopsis

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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