- Hoo J J, Chao M, Szego K, Rauer M, Echiverri S C, Harris C.: Four new cases of inverted terminal duplication: a modified hypothesis of mechanism of origin. AJMG 58:299-304, 1995. [PubMed: 8533837]A telomeric deletion followed by a U-type reunion of the chromatids is the proposed mechanism for these inverted terminal duplications.Case 4, B.A.46,XX,inv dup(10)(pter->q26.2::q26.2->q25.1)de novo.Patient was 4 years old with MCA and delayed development.Aberration: DuplicationChromosomal Aneuploidy: 10q+Positive band
- McCandless S E, Schwartz S, Morrison S, Garlapati K, Robin N H.: Adult with an interstitial deletion of chromosome 10 [del(10)(q25.1q25.3)]: overlap with Coffin-Lowry syndrome. AJMG 95:93-98, 2000. [PubMed: 11078556]The patient was 48 years old.46,XY,del(10)(q25.1q25.3)de novo.Aberration: Interstitial deletionMIM#: 303600Chromosomal Aneuploidy: 10q-No band
Publication Details
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-. 10q251.