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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- Chen C-P, Lin S-P, Chern S-R, Lin C-C, Li Y-C, Lee C-C, Hsieh L-J, Chen W-L, Wang W.: Molecular cytogenetic analysis of de novo dup(5)(q33.1q31.1) associated with abnormal perinatal findings. Prenat. Diag. 26:181-183, 2006. [PubMed: 16470511]46,XY,dup(5)(q33.1q31.1)de novo.Paternal origin of the duplication.Aberration: DuplicationChromosomal Aneuploidy: 5q+
- Martin D M, Mindell M H, Kwierant C A, Glover T W, Gorski J L.: Interrupted aortic arch in a child with trisomy 5q31.1q35.1 due to a maternal (20;5) balanced insertion. AJMG DOI=10.1002/ajmg.a.10064; 116A:268-271, 2003. [PubMed: 12503105]Mother=46,XX,ins(20;5)(p13;q31.1q35.1).,Proband=46,XY,der(20)ins(20;5)(p13;q31.1q35.1)mat.The infant died after 3 days.Aberration: Direct insertion between two chromosomesChromosomal Aneuploidy: 5q+Index Terms: Interrupted aortic arch (IAA)
- Mosca A L, Callier P, Leheup B, Marle N, Jalloul M, Coffinet L, Feillet F, Valduga M, Jonveaux P, Mugneret F.: Fortuitous FISH diagnosis of an interstitial microdeletion (5)(q31.1q31.2) in a girl suspected to present a cri-du-chat syndrome. AJMG Part A: 143A: 1342-1347, 2007. [PubMed: 17506096]46,XX.ish del(5)(q31.1q31.2)(D5S2429+,D5S606-,D5S2603-,D5S1701-,D5S500-,D5S1372-,D5S2530-,D5S1932+).The patient was 16 months old with MCA and developmental problems.Aberration: Interstitial deletionChromosomal Aneuploidy: 5q-
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- 05q311 - Chromosomal Variation in Man05q311 - Chromosomal Variation in Man
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