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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- Iglesias A, Rauen K A, Albertson D G, Pinkel D, Cotter P D.: Duplication of distal 20q: clinical, cytogenetic and array CGH characterization of a new case. Clin. Dysmorphol. 15: 19-23, 2006. [PubMed: 16317302]46,XY,dup(20)(q13.2q13.2)de novo.The patient was a newborn with MCA including severe aortic coarctation, hypothyroidism, and hypertelorism..The minimal size of the duplication is estimated to be 7.6 Mb.Aberration: DuplicationChromosomal Aneuploidy: 20q+
- Leppig K A, Ball S, Au K, Opheim K E, Norwood T.: Familial cryptic (20;21) translocation identified by in situ hybridization technologies. AJMG 93:273-277, 2000. [PubMed: 10946352]Patient=46,XY,der(21)t(20;21)(q13.2;q22.13 or 22.2)mat.,Maternal grandmother=46,XX,t(20;21).Family history of early pregnancy losses.Genetic amniocentesis was prompted by anomalies detected by ultrasound at 34 weeks.Aberration: Reciprocal translocationChromosomal Aneuploidy: 20q+No band
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- 20q132 - Chromosomal Variation in Man20q132 - Chromosomal Variation in Man
- Specific Protein Links for Conserved Domains (Select 277101) (806)Protein
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