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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- 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 2, M.W.46,XX,inv dup(10)(qter->p15::p15->p12.3).The 21 month old patient had VSD, a bulging anterior fontanelle and a delayed psychomotor development.A FISH study using D10S678 probe which is localized to 10p14 showed two adjacent signals.Aberration: DuplicationChromosomal Aneuploidy: 10p+Positive band
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