- Tonk V, Schneider N R, Delgado M R, Mao J I, Schultz R A.: Identification and molecular confirmation of a small chroosome10q duplication [dir dup(10)(q24.2->q24.3)] inherited from a mother mosaic for the abnormality. AJMG 61:16-20, 1996. [PubMed: 8741911]Case 1 and his sister case 2:46,XX or XY,der dir dup(10)(q24.2->q24.3)mat.,Mother:Lymphocyte-46,XX(90%)/46,XX,dir dup(10)(q24.2->q24.3).Case 1: The boy was referred at age 6 with a history of global developmental dealy and hypotonic weakness since birth.,Case 2: The 28-month-old also had delayed developmental landmarks.Aberration: Direct duplicationChromosomal Aneuploidy: 10q+Positive band
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Copyright
Copyright © 2011-2013, Digamber
Borgaonkar.
Publisher
National Center for Biotechnology Information (US), Bethesda (MD)
NLM Citation
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-. 10q242.