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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- Bonaglia M C, Giorda R, Borgatti R, Felisari G, Gagliardi C, Selicorni A, Zuffardi O.: Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome. AJHG 69:261-268, 2001. [PMC free article: PMC1235301] [PubMed: 11431708]46,XY,t(12;22)(q24.1;q13.3)de novoAberration: RT,IDChromosomal Aneuploidy: 22q-Index Terms: ProSAP2 gene,FLJ10659 geneNo band
- Doco-Fenzy M, Mauran P, Lebrun J M, Bock S, Bednarek N, Struski S, Albuisson J, Ardalan A, Collot N, Schneider A, Dastot-Le Moal F, Gaillard D, Goosens M.: Pure direct duplication (12)(q24.1->q24.2) in a child with Marcus Gunn phenomenon and multiple congenital anomalies. AJMG DOI=10.1002/ajmg.a.31057; 140A:21-221, 2006. [PubMed: 16411218]46,XX,dup(12)(q24.1->q24.2)The patient was 2 1/2 years old.Aberration: DuplicationChromosomal Aneuploidy: 12q+Index Terms: Marcus Gunn phenomenon
- Kotzot D, Martinez M-J, Bagci G, Basaran S, Baumer A, Binkert F, Brecevic L, Castellan C, Chrzankowska K, Dutly F, Gutkowska A, Karauzum S B, Krajewska-Walasek M, Luleci G, Miny P, Riegel M, Schuffenhauer S, Seidel H, Schinzel A.: Parental origin and mechanisms of formation of cytogenetically recognisable de novo direct and inverted duplications. J. Med. Genet. 37:281-286, 2000. [PMC free article: PMC1734569] [PubMed: 10745046]Case 15:46,XX,dup(12)(q24.1q24.3)Aberration: DuplicationChromosomal Aneuploidy: 12q+
- Trent J M, Olson S B, Lawn R M: Chromosomal localization of human leukocyte, fibroblast, and immune interferon, genes by means of in situ hybridization. PNAS 79:7809-7813, 1982. [PMC free article: PMC347438] [PubMed: 6818550]Assignment has been made of IFN-lambda gene on 12q241 segment.MIM#: 147570Index Terms: InterferonNegative band
- 12q241 - Chromosomal Variation in Man12q241 - Chromosomal Variation in Man
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