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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- Ballif B C, Theisen A, Rosenfeld J A, Traylor R N, Gastier-Foster J, Thrush D L, Astbury C, Bartholomew D, McBride K L, Pyatt R E, Shane K, Smith W E, Banks V, Gallentine W B, Brock P, Rudd M K, Adam M P, Keene J A, Phillips III J A, Pfotenhauer J P, Gowans G C, Stankiewicz P, Bejjani B A, Shaffer L G.: Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnomalities. AJHG 86: 454-461, 2010. [PMC free article: PMC2833380] [PubMed: 20206336]46,XX/XY,del(17)(q23.1q23.2).Seven patients have been describedAberration: Interstitial deletionChromosomal Aneuploidy: 17q-
- Huang B, Wang S, Ning Y, Lamb A N, Bartley J.: Autosomal XX sex reversal caused by duplication of SOX9. AJMG 87:349-353, 1999. [PubMed: 10588843]Lymphocytes=mos46,XX,dup(17)(q23.1q24.3)[17]/46,XX[33].,Skin=mos46,XX,dup(17)(q23.1q24.3)[39]/46,XX[11].The infant was referred because of abnormal genitalia.Parental chromosomes were normal. SOX9 gene was duplicated in the rearranged chromosome.Aberration: DuplicationMIM#: 211970Chromosomal Aneuploidy: 17q+Index Terms: SOX9
- 17q231 - Chromosomal Variation in Man17q231 - Chromosomal Variation in Man
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