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Borgaonkar DS. Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1975-.
Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].
Show details- Belar O, Sanchez del Pozo J, Moreno-Garcia M, Cruz-Rojo J, Garin I, Perez de Nanclares G.: Clinical characterization of a girl with trisomy 20q13.2qter and monosomy 13q33.1qter: Delineating phenotype-genotype correlations. AJMG Part A: 152A: 2901-2905, 2010. [PubMed: 20949536]Mother=46,XX,t(13;20).,Patient=46,XX.ish der(13)t(13;20)(q33;q13.2)(tel 13q-,tel20q+)mat.arr der(13)13q33.1qter(102,495,510-114,142,954)x1,20q3.2qter(53,106,310-62,435,910)x3The patient was 6 years old.Aberration: Reciprocal translocationChromosomal Aneuploidy: 13q-; 20q+
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