Ken‐ichi Ohba, Shigehiro Ohdo, T Sonoda
Abstract
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A female infant with karyotype 46,XX,rec(10),dup p inv(10)(p11.2q25.2)mat is presented. She had both duplication of 10p and deletion of distal 10q, but only had the constellation of specific features characteristic of duplication of 10p.
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A female infant with karyotype 46,XX,rec(10),dup p inv(10)(p11.2q25.2)mat is presented. She had both duplication of 10p and deletion of distal 10q, but only had the constellation of specific features characteristic of duplication of 10p.
Key concepts: dup, Chromosomal inversion, Gene duplication, Trisomy, Karyotype, Biology, Genetics, Chromosome