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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- Forsythe M G, Walker H, Weiss L, Roberson J R, Worsham M J, Babu V R, Van Dyke D L: "Duplication and deletion 11q23-q24 recombinants in two offspring of an intrachromosomal insertion (""shift"") carrier." Henry Ford Hosp. Med. J. 36:183-186, 1988. [PubMed: 3250948]Father:46,XY,ins(11)(p14.2q23.3q24.2).,Case 1:(060777):46,XY,del(11)(q23.3q24.2)pat.,Case 2:(050175):46,XX,rec(11)dup q,ins(11)(p14.2q23.3q24.2)pat.Severe retardation, mild synophrys, down slanting palpebral fissures, bilateral epicanthal folds, anteverted nares, thin upper lips, and micrognathia were the characteristics of the boy.,The girl was mildly affected with slightly dysmorphic features.It is suggested that duplication of a specific region of the genome typically has a less dramatic effect on phenotype than does a deletion of the same segment.Aberration: IN,REChromosomal Aneuploidy: 11q-,11q+Negative band
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