Maternal disomy and Prader-Willi syndrome consistent with gamete complementation in a case of familial translocation (3;15) (p25;q11.2)

American Journal of Medical Genetics

Volumn 78, Issue 2, 1998, Pages 134-139

  Park, Jonathan P ^a   Moeschler, John B ^a   Hani, Valerie H ^a   Hawk, Arnold B ^a   Belloni, Dorothy R ^a   Noll, Walter W ^a   Mohandas, T K ^a  

^a DARTMOUTH HITCHCOCK MEDICAL CENTER   (United States)

Author keywords

Chromosome 15; Gamete complementation; Prader Willi syndrome; Translocation; Uniparental disomy

Indexed keywords

ADOLESCENT; ARTICLE; CASE REPORT; CHROMOSOME 15Q; CHROMOSOME 3P; CHROMOSOME TRANSLOCATION 15; FLUORESCENCE IN SITU HYBRIDIZATION; GENE SEGREGATION; HUMAN; HUMAN CELL; HYPOGONADISM; MALE; MUSCLE HYPOTONIA; OBESITY; POLYMERASE CHAIN REACTION; PRADER WILLI SYNDROME; PRIORITY JOURNAL; UNIPARENTAL DISOMY;

ADOLESCENT; CHROMOSOMES, HUMAN, PAIR 15; CHROMOSOMES, HUMAN, PAIR 3; DNA METHYLATION; FEMALE; GENETIC COMPLEMENTATION TEST; GENOMIC IMPRINTING; GERM CELLS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MICROSATELLITE REPEATS; PEDIGREE; PRADER-WILLI SYNDROME; TRANSLOCATION, GENETIC;

EID: 0032581119     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19980630)78:2<134::AID-AJMG7>3.0.CO;2-O     Document Type: Article

References (19)

1. Dawson AJ, Mears AJ, Chudley AE, Bech-Hansen T, McDermid H (1996): Der(22)t(11;22) resulting from a paternal de novo translocation, adjacent 1 segregation, and maternal heterodisomy of chromosome 22. J Med Genet 33:952-956.
2. Engel E (1993): Uniparental disomy revisited: The first twelve years. Am J Med Genet 46:670-674.
3. Holm VA, Cassidy SB, Butler MG, Hanchett JM, Greenswag LR, Whitman BY, Greenberg F (1993): Prader-Willi syndrome: Consensus diagnostic criteria. Pediatrics 91:398-402.
4. Horsthemke B, Maat-Kievit A, Sleegers E, van den Omveland A, Buiting K, Lieh C, Hollevanger P, Beverstock G, Gillessen-Kaesbach G, Schwanitz G (1996): Familial translocations involving 15q11-q13 can give rise to interstitial deletions causing Prader-Willi or Angelman syndrome. J Med Genet 33:848-851.
5. James RS, Temple IK, Patch C, Thompson EM, Hassold T, Jacobs PA (1994): A systematic search for uniparental disomy in carriers of chromosome translocations. Eur J Hum Gent 2:83-95.
6. Kubota T, Sutcliffe JS, Aradhya S, Gillessen-Kaesbach G, Christian SL, Horsthemke B, Beaudet AL, Ledbetter DH (1996): Validation studies of SNRPN methylation as a diagnostic test for Prader-Willi syndrome. Am J Med Genet 66:77-80.
7. Ledbetter DH, Riccardi VM, Airhart SD, Strobel RJ, Keenan BS, Crawford JD (1981): Deletions of chromosome 15 as a cause of Prader-Willi syndrome. N Engl J Med 304:325-329.
8. 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.
9. Mutirangura A, Greenberg F, Butler MG, Malcolm S, Nicholls RD, Chakravarti A, Ledbetter DH (1993): Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-q13): Molecular diagnosis and mechanism of uniparental disomy. Hum Mol Genet 2:143-151.
10. Narahara K, Kikkawa K, Murakami M, Hiramoto K, Namba H, Tsuji K, Yokoyama Y, Kimoto H (1990): Loss of the 3p25.3 band is critical in the manifestation of del(3p) syndrome: Karyotype-phenotype correlation in cases with deficiency of the distal portion of the short arm of chromosome 3. Am J Med Genet 35:269-273.
11. Nicholls RD, Knoll JHM, Butler MG, Karam S, LaLande M (1989): Genetic imprinting suggested by maternal heterodisomy in non-deletion Prader-Willi syndrome. Nature 342:281-285.
12. Nicholls RD (1994): New insights reveal complex mechanisms involved in gene imprinting. Am J Hum Genet 54:733-740.
13. Park JP (1996): Shared synteny of human chromosome 17 loci in Canids. Cytogenet Cell Genet 74:133-137.
14. Reis A, Dittrich B, Greger V, Buiting K, LaLande M, Gillessen-Kaesbach G, Anvret M, Horsthemke B (1994): Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes. Am J Hum Genet 54:741-747.
15. Smeets DFCM, Hamel BCJ, Nelen MR, Smeets HJM, Bollen JHM, Smits APT, Ropers H-H, van Oost BA (1992): Prader-Willi syndrome and Angelman syndrome in cousins from a family with a translocation between chromosomes 6 and 15. N Engl J Med 326:807-811.
16. Smith A, Deng Z-M, Beran R, Woodage T, Trent RJ (1994): Familial unbalanced translocation t(8;15)(p23.3;q11) with uniparental disomy in Angelman syndrome. Hum Genet 93:471-473.
17. Sutcliffe JS, Nakao M, Christian S, Örstavik KH, Tommerup N, Ledbetter DH, Beaudet AL (1994): Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region. Nat Genet 8:52-58.
18. Toth-Fejel SE, Olson S, Gunter K, Quan F, Wolford J, Popovich BW, Magenis RE (1996): The impact of imprinting: Prader-Willi syndrome resulting from chromosome translocation, recombination, and nondisjunction. Am J Hum Genet 58:1008-1016.
19. Wang J-CC, 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.