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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- Beatty-De Sana J W, Hoggard M J, Cooledge J W: Non-random occurrence of 7-14 translocations in human lymphocyte cultures. Nature 255:242-243, 1975.These authors, along with others in two companion articles (Welch and Lee and Hecht et al) have made an interesting observation. They consistently found translocations involving this region with chromosome 7 at p13 and q3 in a small proportion of cells from quite a few individuals.No band
- Cotter P D, Kaffe S, McCurdy L D, Jhaveri M, Willner J P, Hirschhorn K.: Paternal uniparental disomy for chromosome 14: a case report and review. AJMG 70:74-79, 1997. [PubMed: 9129745]Proband:45,XX,der(13;14)(q10;q10)pat.,Mother:45,XX,der(14;21)(q10;q10).Patients with patUPD14 seem to have polyhydramnios, facial and skeletal anomalies (a small thorax, abnormal ribs, and short limbs).UPD14 resulted from a meiosis-I non-disjunction. Several markers on chromosomes 13, 14 and 21 were used in the molecular analyses.Aberration: Robertsonian translocationsIndex Terms: UPD
- Engelen J J M, Albrechts, J C M, Loots W J G, Hollanders-Crombach B H T M, Hamers A J H, Geraedts J P M.: Application of micro-FISH to delineate deletions. Cytogenet. Cell Genet. 75:167-171, 1996. [PubMed: 9040786]Case 3:45,XX,rob(14;15)(q10;q10),del(15)(q12)The patient was referred for diagnostic work-up at the of 8 months, because of developmental retardation, generalized hypotonia, protruding tongue, and occasional inexpedient motoric anxiety.Aberration: TR,IDChromosomal Aneuploidy: 15q-Index Terms: micro-FISH
- Flori E, Biancalana V, Girard-Lemaire F, Favre R, Flori J, Doray B, Mandel J L.: Difficulties of genetic counseling and prenatal diagnosis in a consanguineous couple segregating for the same translocation (14;15)(q11;q13) and at risk for Prader-Willi and Angelman syndromes. Europ. J. Hum. Genet. 12:181-186, 2004. [PubMed: 14694357]A five generation family with several carriers: 46,XX and XY,t(14;15)(q11;q13).The first child, with PWS, had a paternal 15q11-q13 deletion. Prenatal diagnosis in a subsequent pregnancy demonstarted that PWS was associated with a maternal 15q11-q13 UPD in the fetus (later terminated). Two children had AS and deletion 15pter->15q13. Patient V11 had a 15pter->15q13 trisomy. Individuals III6, IV6, IV11, IV13, IV17, V4, V9, V10, and V13 were phenotypically normal carriers of the balanced translocation. IV4, wife of IV13, was also found to be a carrier of the translocation.Aberration: Robertsonian translocations
- Fryns J P, Cassiman J J, van den Berghe H: Tertiary partial 14 trisomy 47,XX,+14q-. Humangenetik 24:71-77, 1974. [PubMed: 4426632]46,XX,t(14;19)(q1;19+).Diana W. (141065) in this report.47,XX,+der(14)t(14q-;19+).&Further identification for chromosome 19 region in this report is lacking.Aberration: Simple translocationNo band
- Honda H, Miharu N, Samura O, He H, Ohama K.: Meiotic segregation analysis of a 14;21 Robertsonian translocation carrier by fluorescence in situ hybridization. Hum. Genet. DOI 10.1007/s004399900216;106:188-193, January 18, 2000. [PubMed: 10746560]45,XY,der(14;21)(q10;q10)The 32 year old man and his wife had a history of repeated reproductive loss.Aberration: Robertsonian translocationsNo band
- Kayashima T, Katahira M, Harada N, Miwa N, Ohta T, Yoshiura K-i, Matsumoto N, Nakane Y, Nakamura Y, Kajii T, Niikawa N, Kishino T.: Maternal isodisomy for 14q21-q24 in a man with diabetes mellitus. AJMG 111:38-42; DOI=10.1002/ajmg.10511, 2002. [PubMed: 12124731]Blood at 21 months of age=45,XY,der(14;14)(q10;q10)[30]/46,XY,+14,der(14;14)(q10;q10)[2].,At 20 years of age=45,XY,der(14;14)(q10;q10)[129]/46,XY,+14,der(14;14)(q10;q10)[1].The patient, a 20-year-old japanese man, had a history of pre- and postnatal growth retardation and mental developmental retardation.Allelotyping indicated segmental maternal isodisomy for 14q21-q24 raising the possibility of a novel locus for a subset of DM at this isodisomic segment.Aberration: UPD,TRChromosomal Aneuploidy: 14q+Index Terms: Diabetes mellitus
- Miyoshi O, Hayashi S, Fujimoto M, Tomita H, Sohda M, Niikawa N.: Maternal uniparental disomy for chromosome 14 in a boy with intrauterine growth retardation. J. Hum. Genet. 43:138-142, 1998. [PubMed: 9621521]45,XY,i(14)(q10) or 45,XY,t(14;14)(p10;q10).The patient was one of triplets.Aberration: IC,UPD
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