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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- Cox D W, Markovic V D, Teshima I E: Genes for immunoglobulin heavy chains and for alpha-antitrypsin are localized to specific regions of chromosome 14q. Nature 297:428-430, 1982. [PubMed: 6804874]Family 2 (HSC-C3). Proband was 7 years old with microcephaly and primary pulmonary hypertension and neutropenia.46,XY,inv(14)(q241q321).Aberration: Inversion paracentricMIM#: 107400,147070Index Terms: Microcephaly,Neutropenia,Pulmonary hypertensionNegative band
- Kleczkowska A, Fryns J P, Van den Berghe H: On the variable effect of mosaic normal/balanced chromosomal rearrangements in man. J. Med. Genet. 27:505-507, 1990. [PMC free article: PMC1017199] [PubMed: 2213843]Patient 3mos46,XX/46,XX,ins(14;13)(q24.1;q31.1q32.3).Genetic counselling for tetralogy of fallot.Aberration: Direct insertion between two chromosomesNegative band
- Madan K, Seabright M, Lindenbaum R H, Bobrow M: Paracentric inversions in man. J. Med. Genet. 21:407-412, 1984. [PMC free article: PMC1049338] [PubMed: 6392555]Case 15.46,XY,inv(14)(q24.1q32.1)pat.Aberration: Inversion paracentricNegative band
- Martin R H.: Sperm chromosome analysis in a man heterozygous for a paracentric inversion of chromosome 14 (q24.1q32.1). AJHG 64:1480-1484, 1999. [PMC free article: PMC1377889] [PubMed: 10205284]46,XY,inv(14)(q24.132.1)Case was ascertained at amniocentesis, done because of advanced maternal age. No recombinants, dicentrics and other anomalies were seen.Aberration: Inversion paracentricIndex Terms: Sperm ... chromosome,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
- Miller K, Raabe G, Schlesinger C, Schulze B: Paracentric inversion 14. Ann. Genet. 33:225-227, 1990. [PubMed: 2095705]46,XX,inv(14)(q24.1q32.1)mat.The 34-year-old woman was ascertained because of multiple abortions. Her mother had a normal karyotype and her two daughters were carriers.Aberration: Inversion paracentricNegative 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(14;15)(q24.1;p11).Aberration: Reciprocal translocationNegative band
- 14q241 - Chromosomal Variation in Man14q241 - Chromosomal Variation in Man
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