Maternal uniparental disomy for chromosome 14 in a boy with a normal karyotype

Journal of Medical Genetics

Volumn 36, Issue 10, 1999, Pages 782-785

  Hordijk, Roel ^a   Wierenga, Henk ^b   Scheffer, Hans ^a   Leegte, Beike ^a   Hofstra, Robert M W ^a   Stolte Dijkstra, Irene ^a  

^a UNIVERSITY OF GRONINGEN   (Netherlands)

^b Wilhelmina Ziekenhuis   (Netherlands)

Author keywords

Chromosome 14; Genomic imprinting; Prader Willi syndrome; Uniparental disomy

Indexed keywords

APPETITE; ARTICLE; CASE REPORT; CHROMOSOME 14; CHROMOSOME ANALYSIS; CLINICAL FEATURE; CRYPTORCHISM; DEVELOPMENTAL DISORDER; DNA DETERMINATION; FEEDING; HUMAN; INTRAUTERINE GROWTH RETARDATION; KARYOTYPE; MALE; MOTOR DEVELOPMENT; MUSCLE HYPOTONIA; OBESITY; OTITIS MEDIA; PAIN THRESHOLD; PRADER WILLI SYNDROME; PRECOCIOUS PUBERTY; PRIORITY JOURNAL; ROBERTSONIAN CHROMOSOME TRANSLOCATION; SCHOOL CHILD; SHORT STATURE; SUCKLING; UNIPARENTAL DISOMY; VISUOMOTOR COORDINATION;

EID: 0032850551     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.36.10.782     Document Type: Article

References (20)

1. Engel E. A new genetic concept: uniparental disomy and its potential effect: isodisomy. Am J Med Genet 1980;6:137-43.
2. Spence JE, Perciaccante RG, Greig GM, et al. Uniparental disomy as a mechanism for human genetic disease. Am J Hum Genet 1988;42:217-26.
3. Engel E. Uniparental disomies in unselected populations. Am J Hum Genet 1998;63:962-6.
4. Ledbetter DH, Engel E. Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis. Hum Mol Genet 1995;4:1757-64.
5. Engel E. Uniparental disomy: related syndromes and implications for prenatal diagnosis. Eur J Hum Genet 1998;6(suppl 1):29-30.
6. Temple IK, Cockwell A, Hassold T, Pettay D, Jacobs P. Maternal uniparental disomy for chromosome 14. J Med Genet 1991;28:511-14.
7. 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 1992;50:690-9.
8. Antonarakis SE, Blouin JL, Maher J, Avramopoulos D, Thomas G, Talbot CC Jr. 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 1993;52:1145-52.
9. Robinson WP, Bernasconi F, Basaran S, et al. A somatic origin of homologous robertsonian translocations and isochromosomes. Am J Hum Genet 1994;54:290-302.
10. Healy S, Powell F, Battersby M, Chevenix-Trench G, McGill J. Distinct phenotype in maternal uniparental disomy of chromosome 14. Am J Med Genet 1994;51:147-9.
11. Tomkins DJ, Roux AF, Waye J, Freeman VCP, Cox DW, Whelan DT. Maternal uniparental isodisomy of human chromosome 14 associated with a paternal t(13q14q) and precocious puberty. Eur J Hum Genet 1996;4:153-9.
12. Coviello DA, Panucci E, Mantero MM, et al. Maternal uniparental disomy for chromosome 14. Acta Genet Med Gemellol 1996;45:169-72.
13. Penman Splitt M, Goodship JA. Another case of maternal uniparental disomy chromosome 14 syndrome. Am J Med Genet 1997;72:239-40.
14. Miyoshi O, Hayashi S, Fujimoto M, et al. Maternal uniparental disomy for chromosome 14 in a boy with intrauterine growth retardation. J Hum Genet 1998;43:138-42.
15. Berends MJW, Hordijk R, Scheffer H, Halley DJJ, Sorgedrager N, Oosterwijk JC. Two cases of maternal disomy 14 with a phenotype overlapping with the Prader-Willi phenotype. Am J Med Genet 1999;84:76-9.
16. Sirchia SM, de Andreis C, Pariani S, et al. Chromosome 14 maternal uniparental disomy in the euploid cell line of a fetus with mosaic 46,XX/47,XX,+14 karyotype. Hum Genet 1994;94:355-8.
17. Morichon-Delvallez N, Segues B, Pinson MP, et al. Maternal uniparental disomy for chromosome 14 by secondary nondisjunction of an initial trisomy. Am J Hum Genet 1994;55:A2224.
18. Papenhausen PR, Mueller OT, Johnson VP, Sutcliffe M, Diamond TM, Kousseff BG. Uniparental isodisomy of chromosome 14 in two cases: An abnormal child and a normal adult. Am J Med Genet 1995;59:271-5.
19. Robinson WP, Langlois S. Phenotype of maternal UPD(14). Am J Med Genet 1996;66:89.
20. Papenhausen PR, Mueller OT, Johnson VP, Sutcliffe M, Diamond TM, Kousseff BG. Uniparental isodisomy of chromosome 14 in two cases: an abnormal child and a normal adult. Am J Med Genet 1996;66:90.