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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(7;12)(q113;q15); inv(7)(q113q223).Aberration: IP,RTNo band
- Canki N, Dutrillaux B: Two cases of familial paracentric inversion in man associated with sex chromosome anomaly. 47,XXY,inv(5)(q21q32) and 45,X,inv(7)(q11.3q22.3). Hum. Genet. 47:261-268, 1979. [PubMed: 457116]45,X,inv(7)(pter -> q113::q223 -> q113::q223 -> qter).Case 2 (No. 2562), a 26-year-old school teacher was examined because of primary amenorrhea. Her father and a half-brother have the same inversion. The inverted 7 is similar to chromosome 7 of the gorilla and thus the claim of a first ''back-mutation.''Aberration: Inversion paracentricNo band
- Mikkelsen M, Basli A, Poulsen H: Nucleolus organizer regions in translocations involving acrocentric chromosomes. Cytogenet. Cell Genet. 26:14-21, 1980. [PubMed: 7371429]t(7;13)(q113;p13) a spontaneous culture line.Aberration: Simple translocationNo 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,XY,t(7;22)(q11.3;p11.1).Aberration: Reciprocal translocationNo band
- 07q113 - Chromosomal Variation in Man07q113 - Chromosomal Variation in Man
- Homo sapiens zinc finger protein 248 (ZNF248), transcript variant 40, non-coding...Homo sapiens zinc finger protein 248 (ZNF248), transcript variant 40, non-coding RNAgi|1701108673|ref|NR_148000.2|Nucleotide
- Homo sapiens zinc finger protein 248 (ZNF248), transcript variant 32, non-coding...Homo sapiens zinc finger protein 248 (ZNF248), transcript variant 32, non-coding RNAgi|1701972808|ref|NR_147992.2|Nucleotide
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