Unusual phenotype in partial trisomy 14

American Journal of Medical Genetics

Volumn 87, Issue 4, 1999, Pages 294-296

  Lemire, Edmond G ^a,b   Cardwell, Sharon ^a  

^a UNIVERSITY OF SASKATCHEWAN   (Canada)

^b ROYAL UNIVERSITY HOSPITAL   (Canada)

Author keywords

Chromosome 14; Chromosome 9; Developmental delay; Dup(14q); Obesity, imprinting; Reciprocal translocation

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 14; CHROMOSOME TRANSLOCATION 14; CHROMOSOME TRANSLOCATION 9; FACE MALFORMATION; GENE DISRUPTION; GENOME IMPRINTING; HUMAN; HYPERPHAGIA; MALE; OBESITY; PARTIAL TRISOMY; PHENOTYPE; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; RECIPROCAL CHROMOSOME TRANSLOCATION; SCHOOL CHILD;

ADULT; CHILD; CHROMOSOMES, HUMAN, PAIR 14; CHROMOSOMES, HUMAN, PAIR 9; FAMILY HEALTH; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MALE; PHENOTYPE; TRANSLOCATION, GENETIC; TRISOMY;

EID: 0032706412     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19991203)87:4<294::AID-AJMG2>3.0.CO;2-S     Document Type: Article

References (18)

1. Abeliovich D, Yagupsky P, Bashan N. 1982. 3:1 Meiotic disjunction in a mother with a balanced translocation, 46,XX,t(5,14)(p15;q13) resulting in tertiary trisomy and tertiary monosomy offspring. Am J Med Genet 12:83-89.
2. Allderdice PW, Miller OJ, Miller DA, Breg WR, Gendel E, Zelson C. 1971. Familial translocation involving chromosomes 6, 14 and 20, identified by quinacrine fluorescence. Humangenetik 13:205-209.
3. Berends MJW, Hordijk R, Scheffer H, Oosterwijk JC, Halley DJJ, Sorgedrager N. 1999. Two cases of maternal uniparental disomy 14 with a phenotype overlapping with the Prader-Willi phenotype. Am J Med Genet 84:76-79.
4. Coco R, Penchaszadeh VB. 1977. Partial trisomy 14q and familial translocation (2;14)(q12;q13). Ann Génét 20:41-44.
5. Coviello DA, Panucci E, Mantero MM, Perfumo C, Guelfi M, Borrone C, Bricarelli FD, 1996. Maternal uniparental disomy for chromosome 14. Acta Genet Med Gemellol 45:169-172.
6. Faugeras C, Barthe D. 1986. Trisomie 14 proximale: étude clinique et cytogénétique: à propos d'une nouvelle observation. Ann Pédiatr (Paris) 33:55-58.
7. Ginsburg C, Fokstuen S, Schinzel A. 1998. The contribution of uniparental disomy to congenital developmental defects in children born to "old" mothers. Eur J Hum Genet [Suppl 1] 6:P4.130.
8. Hess RO, Meisner LF. 1987. Apparent Prader-Willi phenotype in a woman with ring chromosome 9. Am J Med Genet Suppl 3:133-138.
9. 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.
10. Kotzot D. 1999. Abnormal phenotypes in uniparental disomy (UPD): fundamental aspects and a critical review with bibliography of UPD other than 15. Am J Med Genet 82:265-274.
11. 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.
12. Miyoshi O, Hayashi S, Fujimoto M, Tomita H, Sohda M, Niikawa N. 1998. Maternal uniparental disomy for chromosome 14 in a boy with intra-uterine growth retardation. Hum Genet 43:138-142.
13. Papenhausen PR, Mueller OT, Johnson VP, Sutcliffe M, Diamond TM, Kousseff BG. 1995. Uniparental isodisomy of chromosome 14 in two cases: an abnormal child and a normal adult. Am J Med Genet 59:271-275.
14. Park JP, Edwards MJ, Moeschler JB, Marin-Padilla JM, Berg SZ, Wurster-Hill DH. 1991. Familial translocation 5;14 resulting in an unbalanced offspring. Am J Med Genet 39:362-366.
15. Pena SDJ, Ray M, McAlpine PJ, Ducasse C, Briggs J, Hamerton JL. 1976. Tertiary trisomy 14: is there a syndrome? Birth Defects Orig Artic Ser XII:13-118.
16. Penman Splitt M, Goodship JA. 1997. Another case of maternal uniparental disomy chromosome 14 syndrome. Am J Med Genet 72:239-240.
17. Schinzel A, Ginsburg C, Fokstuen S. 1998. The contribution of uniparental disomy to developmental defects in offspring of "old" mothers. Genet Couns 9:87.
18. Short EM, Solitare GB, Breg WR. 1972. A case of partial 14 trisomy 47,XY,(14q-)+ and translocation t(9p+;14q-) in mother and brother. J Med Genet 9:367-373.