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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- Dixon J W, Costa T, Teshima I E: Mosaicism for duplication 12q (12q13 to q24.2) in a dysmorphic male infant. J. Med. Genet. 30:70-72, 1993. [PMC free article: PMC1016239] [PubMed: 8423612]mos46,XY/46,XY,dir dup(12)(q13.1 -> q24.2)de novo.Patient at 7 1/2 months of age was developmentally delayed.Aberration: Direct duplicationChromosomal Aneuploidy: 12q+Negative band
- Wilson G N, Stout J P, Schneider N R, Zneimer S M, Gilstrap L C: Balanced translocation 12/13 and situs abnormalities: homology of early pattern formation in man and lower organisms? AJMG 38:601-607, 1991. [PubMed: 2063904]46,XX,der(12)der(13)t(12;13)(q13.1;p13)mat.The fetus had multiple anomalies while the mother was normal.Aberration: Simple translocationMIM#: 270100Negative band
- Winnepenninckx B, Reyniers E, Bossuyt P, Smits A, Wauters J, Kooy R F.: Precise mapping of the fragile site FRA12A on chromosome 12q13.1. GeneScreen 1:131-137, 2005.Cell lines from patients reported by Smeets et al (1985) and Stetten et al (1988), and cited under 12q130, were worked on.
Winnepenninckx B, Reyniers E, Bossuyt P, Smits A, Wauters J, Kooy R F.: Precise mapping of the fragile site FRA12A on chromosome 12q13.1. GeneScreen 1:131-137, 2005.Cell lines from patients reported by Smeets et al (1985) and Stetten et al (1988), and cited under 12q130, were worked on.
Winnepenninckx B, Reyniers E, Bossuyt P, Smits A, Wauters J, Kooy R F.: Precise mapping of the fragile site FRA12A on chromosome 12q13.1. GeneScreen 1:131-137; DOI=10.1046/j.1466-9218.2001.00013.x, 2001.Cell lines from patients reported by Smeets et al (1985) and Stetten et al (1988), and cited under 12q130, were worked on.Aberration: Fragile sitesIndex Terms: FRA12A
- 12q131 - Chromosomal Variation in Man12q131 - Chromosomal Variation in Man
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