Paternal uniparental disomy for chromosome 14: A case report and review

American Journal of Medical Genetics

Volumn 70, Issue 1, 1997, Pages 74-79

  Cotter, Phillip D ^a   Kaffe, Sara ^a,b   McCurdy, Leslie D ^a   Jhaveri, Meenakshi ^b   Willner, Judith P ^a   Hirschhorn, Kurt ^a  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^b ELMHURST HOSPITAL CENTER   (United States)

Author keywords

chromosome 14; imprinting; Robertsonian translocation; uniparental disomy

Indexed keywords

ARTICLE; CHROMOSOME 14; HUMAN; KARYOTYPE; LEARNING; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; ROBERTSONIAN CHROMOSOME TRANSLOCATION; UNIPARENTAL DISOMY;

ABNORMALITIES, MULTIPLE; ADULT; ANEUPLOIDY; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 14; FEMALE; GENETIC MARKERS; GENOMIC IMPRINTING; HUMANS; INFANT; LYMPHOCYTES; MALE; PEDIGREE; POLYMORPHISM, GENETIC; PRENATAL DIAGNOSIS; TRANSLOCATION, GENETIC;

ROBERTSONIA;

EID: 0030893234     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19970502)70:1<74::AID-AJMG14>3.0.CO;2-U     Document Type: Article

References (27)

1. Antonarakis SE, Blouin JL, Maher J, Avramopoulos D, Thomas G, Talbot Jr CC (1993): Maternal uniparental disomy for human chromosome 14, due to loss of a chromosome 14 from somatic cells with t(13;14) trisomy 14. Am J Hum Genet 52:1145-1152.
2. Cattanach BM, Kirk M (1985): Differential activity of maternally and paternally derived chromosome regions in mice. Nature 315:496-498.
3. Cattanach BM, Barr J, Jones J (1995): Use of chromosome rearrangements for investigations into imprinting in the mouse. In Ohlsson R, Hall K, Ritzen M (eds): "Genomic Imprinting, Causes and Consequences." Cambridge: Cambridge University Press, pp 327-341.
4. Coviello DA, Panucci E, Mantero MM, Perfumo C, Guelfi M, Borronco C, Dagna-Bricarelli F (1995): Maternal uniparental disomy for chromosome 14. Am J Hum Genet 57:111A.
5. Cox DW, Gedde-Dahl T, Menon AG, Nygaard TG, Tomlinson IM, Peters J, St.George-Hyslop PH, Walter MA, Edwards JH (1995): Report of the second international workshop on human chromosome 14 mapping 1994. Cytogenet Cell Genet 69:159-174.
6. Engel E (1980): A new genetic concept: Uniparental disomy and its potential effect, isodisomy. Am J Med Genet 6:137-143.
7. Fujimoto A, Allanson J, Crowe CA, Lipson MH, Johnson VP. Natural history of mosaic trisomy 14 syndrome. Am J Med Genet 44:189-196.
8. Genome Data Base GDB(TM) (1995): "The Human Genome Data Base Project." Baltimore, MD: Johns Hopkins University, World Wide Web 〈URL:http://gdbwww.gdb.org/gdbdoc/topq.html〉.
9. Healey S, Powell F, Battersby M, Chenevix-Trench G, McGill J (1994): Distinct phenotype in maternal uniparental disomy of chromosome 14. Am J Med Genet 51:147-149.
10. Kalousek DK, Barrett I (1994): Genomic imprinting related to prenatal diagnosis. Prenat Diagn 14:1191-201.
11. Kalousek DK, Langlois S, Barrett I, Yam I, Wilson DR, Howard-Peebles PN, Johnson MP, Giorgiutti E (1993): Uniparental disomy for chromosome 16 in humans. Am J Hum Genet 52:8-16.
12. Ledbetter DH, Engel E (1995): Uniparental disomy in humans: Development of an imprinting map and its implications for prenatal diagnosis. Hum Mol Genet 4:1757-1764.
13. Morichon-Delvallez N, Seques B, Pinson MP, Bérubé D, Dommerques M, Aubry MC, Cessot F, Lyonnet S, Munnich A, Vekemans M (1994): Maternal uniparental disomy for chromosome 14 by secondary nondisjunction of a initial trisomy. Am J Hum Genet 55:379A.
14. Nicholls RD (1883): Genomic imprinting and uniparental disomy in Angelman and Prader-Willi syndromes: A review. Am J Med Genet 46:16-25.
15. Papenhausen PR, Mueller OT, Johnson VP, Sutcliffe M, Diamond TM, Kousseff BG (1995): Uniparental disomy of chromosome 14 in two cases: An abnormal child and a normal adult. Am J Med Genet 59:271-275.
16. Pentao L, Lewis RA, Ledbetter DH, Patel PI, Lupski JR. Maternal uniparental isodisomy of chromosome 14: Association with autosomal recessive rod monochromacy. Am J Hum Genet 50:690-699.
17. Robinson WP et al. (1994): A somatic origin of homologous robertsonian translocations and isochromosomes. Am J Hum Genet 54:290-302.
18. Sambrook J, Fritsch EF, Maniatis T (1989): "Molecular Cloning: A Laboratory Manual." Cold Spring Harbor, NY: Cold Spring Harbor Laboratory.
19. Sirchia SM, DeAdnreis C, Pariani S, Grimoldi MG, Molinari A, Buscaglia M, Simoni G (1994): Chromosome 14 maternal uniparental disomy in the euploid cell line of a fetus with mosaic 46,XX/47,XX,+14 karyotype. Hum Genet 94:355-358.
20. Slatter RE, Elliott M, Welham K, Carrera M, Schofield PN, Barton DE, Maher ER (1994): Mosaic uniparental disomy in Beckwith-Wiedemann syndrome. J Med Genet 31:749-753.
21. Spence JE, Perciaccante RG, Greig GM, Willard HF, Ledbetter DH, Hejtmancik JF, Pollack MS, O'Brien WE, Beaudet AL (1988): Uniparental disomy as a mechanism for human genetic disease. Am J Hum Genet 42:217-226.
22. Temple IK, Cockwell A, Hassold T, Pettay D, Jacobs P (1991): Maternal uniparental disomy for chromosome 14. J Med Genet 28:511-514.
23. Tomkins DJ, Waye JS, Whelan DT, Cox DW (1994): Maternal uniparental disomy of chromosome 14 in a boy with t(14q14q) associated with a paternal t(13q14q). Am J Hum Genet 55:120A.
24. Voss R, Ben-Simon E, Avital A, Godfrey S, Zlotogora J, Dagan J, Tikochinski Y, Hillel J (1989): Isodisomy of chromosome 7 in a patient with cystic fibrosis: Could uniparental disomy be common in humans? Am J Hum Genet 45:373-380.
25. Walter CA, Shaffer LG, Kaye CI, Huff RW, Ghidoni PD, McCaskill C, McFarland MB, Moore CM (1996): Short-limb dwarfism and hypertrophic cardiomyopathy in a patient with paternal isodisomy 14: 45,XY,idic(14)(p11). Am J Med Genet 65:259-265.
26. Wang JC, Passage MB, Yen PH, Shapiro LJ, Mohandas TK (1991): Uniparental heterodisomy for chromosome 14 in a phenotypically abnormal familial balanced 13/14 robertsonian translocation carrier. Am J Hum Genet 48:1069-1074.
27. Wang Z, Weber JL (1992): Continuous linkage map of human chromosome 14 short tandem repeat polymorphisms. Genomics 13:532-536.