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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- Martin R H, Hulten M: Chromosome complements in 695 sperm from three men heterozygous for reciprocal translocations, and a review of the literature. Hereditas 118:165-175, 1993. [PubMed: 8335473]Patient was 24 years old.46,XY,t(3;11)(q25.3;25).All possible 2:2 amd 3:1 products were observed. No interchromosomal effect on aneuploidy production was seen.Aberration: Reciprocal translocationIndex Terms: Sperm ... chromosomeNegative band
- Ounap K, Ilus T, Bartsch O.: A girl with inverted triplication of chromosome 3q25.3->q29 and multiple congenital anomalies consistent with 3q duplication syndrome. AJMG DOI=10.1002/ajmg.a.30134; 134A:434-438, 2005. [PubMed: 15793836]46,XX,add(3).ish trp(3)(wcp3+,YAC364f09+++)[27]/46,XX[32].,46,XX,add(3).ishtrp(3)(pterq29::q25.3qter)(wcp3+,YAC364f09second-site+,YAC364f09/D3S1311/D3S1272+::YAC364f09/D3S1311/D3S1272+,YAC364f09second-site+::YAC364f09second-site+,YAC364f09/D3S1311/D3S1272+)[27]/46,XX[32]de novo.The newborn died after 3.5 weeks.Aberration: TRIPLICATIONChromosomal Aneuploidy: 3q+Index Terms: Triplication
- Warburton D: De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. AJHG 49:995-1013, 1991. [PMC free article: PMC1683246] [PubMed: 1928105]46,XX,t(3;17)(q25.3;q11.2).Aberration: Reciprocal translocationNegative band
- 03q253 - Chromosomal Variation in Man03q253 - Chromosomal Variation in Man
- Lyciasalamandra luschani basoglui isolate LS J12 titin (TTN) gene, partial cdsLyciasalamandra luschani basoglui isolate LS J12 titin (TTN) gene, partial cdsgi|582983471|gb|KF645465.1|Nucleotide
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