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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- Boue A, Gallano P: A collaborative study of the segregation of inherited chromosome structural rearrangements in 1356 prenatal diagnoses. Prenat. Diag. 4:45-67, 1984. [PubMed: 6463033]t(2;21)(q12;q22).Aberration: Reciprocal translocationPositive band
- Coco R, Penchaszadeh V B: "Partial trisomy 14q and familial translocation (2;14)(q12;q13)." Ann. Genet. 20:41-44, 1977. [PubMed: 302672]
Coco R, Penchaszadeh V B: Cytogenetic findings in 200 children with mental retardation and multiple congenital anomalies of unknown cause. AJMG 12:155-173, 1982. [PubMed: 7102722]There were 14 progeny products in this three generation translocation family: seven persons were carriers, two were normal, one was deceased, one was aneuploid (proband) and three were spontaneous abortions.46,XX and XY,der(2)der(14),t(2;14)(q12;q13)mat and pat.&"46,XX and XY,t(2;14)(2pter -> 2q12::14q13 -> 14qter;14pter -> 14q13::2q12 -> 2qter)mat and pat."Case 120.47,XX,-2,+del(2)(2pter -> 2q12),+der(14),t(2;14)(q12;q13)mat.Aberration: Reciprocal translocationIndex Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)Positive band - Hsu L, In, Daniel A, Hook E B, Wulf G: Risks of unbalanced progeny at amniocentesis to carriers of chromosome rearrangements: data from United States and Canadian laboratories. AJMG 33:14-53, 1989. [PubMed: 2750783]Observation No. 202.46,XX,t(2;6)(q12;q27).Aberration: Reciprocal translocationPositive band
- Leisti J: Structural variation in human mitotic chromosomes. Ann. Acad. Sci. fenn. (Med.) Series A, IV, Biologica 179:1-69, 1971. [PubMed: 4261167]Case No. 1 in this report.46,XX,2qh.Aberration: Marker chromosomePositive band
- Lejeune J, Dutrillaux B, Lafourcade J, Berger R, Abonyi D, Rethore M O: Endoreduplication selective du bras long du chromosome 2 chez une femme et sa fille. C. R. Acad. Sci. 266:24-26, 1968. [PubMed: 4967624]Aberration: Marker chromosomePositive band
- Nielsen J: Structural aberration in chromosome No. 2. Humangenetik 19:281-284, 1973. [PubMed: 4763933]A gap was found at approximately 2q12 in two males with no effect on the phenotype.Positive band
- 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(2;9)(q12;p13).Aberration: Reciprocal translocationPositive band
- 02q120 - Chromosomal Variation in Man02q120 - Chromosomal Variation in Man
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