Prenatal diagnosis of a fetus with pure partial trisomy 1q32-44 due to a familial balanced rearrangement

Prenatal Diagnosis

Volumn 22, Issue 11, 2002, Pages 957-961

  Kimya, Yalçin ^a   Yakut, Tahsin ^a   Egeli, Ünal ^a   Özerkan, Kemal ^a  

^a ULUDAG UNIVERSITY   (Turkey)

Author keywords

Amniocentesis; FISH; Partial trisomy 1q; Prenatal diagnosis

Indexed keywords

AMNIOCENTESIS; ARTICLE; CASE REPORT; CHROMOSOME 1Q; CHROMOSOME ABERRATION; CHROMOSOME REARRANGEMENT; FETUS; FETUS ECHOGRAPHY; FLUORESCENCE IN SITU HYBRIDIZATION; GESTATIONAL AGE; HUMAN; KARYOTYPE; MACROCEPHALY; MALE; MULTIPLE MALFORMATION SYNDROME; PHENOTYPE; POLYDACTYLY; PREGNANCY TERMINATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; TRISOMY; ADULT; CHROMOSOME 1; CHROMOSOME DISORDER; FEMALE; GENE REARRANGEMENT; GENE TRANSLOCATION; GENETICS; KARYOTYPING; PREGNANCY;

ABNORMALITIES, MULTIPLE; ADULT; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 1; FEMALE; GENE REARRANGEMENT; GESTATIONAL AGE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; PREGNANCY; PRENATAL DIAGNOSIS; TRANSLOCATION, GENETIC; TRISOMY;

EID: 18744406989     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/pd.403     Document Type: Article

References (24)

1. Bonfante A, Stella M, Rossi Giovanni. 1978. Partial trisomy of the long arm of chromosome 1 due to a familial translocation t (1; 10) (q32; q26). Hum Genet 45: 339-343.
2. Chia NL, Bousfield LR, Poon CCS, Trudinger BJ. 1988. Trisomy (1q) (q42-qter): Confirmation of a syndrome. Clin Genet 34: 224-229.
3. Clark BJ, Lowther GW, Lee WR. 1994. Congenital ocular defects associated with an abnormality of the human chromosome 1: Trisomy 1q32-qter. J Pediatr Ophthalmol Strabismus 31: 41-45.
4. Duba HC, Erdel M, Löffler J, et al. 1997. Detection of a de novo duplication of 1q32-qter by florescence in situ hybridization in a boy with multiple malformations: Further delineation of the trisomy 1q syndrome. J Med Genet 34: 309-313.
5. DuPont BR, Huff RW, Ridgway LE, Stratton RF, Moore CM. 1994. Prenatal diagnosis of partial trisomy 1q using florescence in situ hybridization. Am J Med Genet 50: 21-27.
6. Flatz S, Fonatsch C. 1979. Partial trisomy 1q due to tandem duplication. Clin Genet 15: 541-542.
7. Furforo L, Rittler M, Slavutsky IR. 1996. Proximal trisomy 1q in a girl with developmental delay and minor anomalies. Am J Med Genet 64: 551-555.
8. Johnson VP. 1991. Duplication of the distal part of the long arm of chromosome 1. Am J Med Genet 39: 258-269.
9. Kennerknecht I, Barbi G, Rodens K. 1993. Dup (1q) (q42-qter) syndrome: Case report and review of the literature. Am J Med Genet 47: 1157-1160.
10. Kiss P, Imrei J. 1989. Trisomy 1q. Clin Genet 36: 75-76.
11. Leisti J, Aula P. 1980. Partial trisomy 1 (q42-qter). Clin Genet 18: 371-378.
12. Liberfarb RM, Breg WR, Atkins L, Holmes LB. 1979. Multiple congenital anomalies/mental retardation (MCA/MR) syndrome due to partial 1q duplication and possible 18p deletion: A study of four individuals in two families. Am J Med Genet 4: 27-37.
13. Lupski JR. 1998. Genomic disorders: Structural features of the genome can lead to DNA rearrangements and human disease traits. Trends Genet 14: 417-422.
14. Michels VV, Berseth CL, O'Brian JF, Dewald G. 1984. Duplication of part of chromosome 1q: Clinical report and review of literature. Am J Med Genet 18: 125-134.
15. Nussbaum RL, McInnes RR, Willard HF, Boerkoel CF (ed). Genetics In Medicine. W.B. Saunders Company: Philadelphia: 146.
16. Pierquin G, Van Regemorter N, Hayez-Delatte, et al. 1991. Two unrelated children with partial trisomy 1q and monosomy 6p, presenting with the phenotype of the Larsen syndrome. Hum Genet 87: 587-591.
17. Pinkel D, Straume T, Gray JW. 1986. Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization. Proc Natl Acad Sci USA 83: 2934-2938.
18. Ram SV, Arvind B (ed.). 1995. Human Chromosomes Principles and Techniques. McGraw Hill, Inc. New York, USA; 75-84.
19. Rasmussen SA, Frias JL, Lafer CZ, Eunpu DL, Zackai EH. 1990. Partial duplication 1q: Report of four patients and review of the literature. Am J Med Genet 36: 137-143.
20. Rehder H, Friedrich U. 1979. Partial trisomy 1q syndrome. Clin Genet 15: 534-540.
21. Sanger R, Alfi O, Donnel G. 1974. Partial trisomy 1q in 3 patients. Am J Hum Genet 26: 75A.
22. Steffensen DM, Chu EHY, Speert DP, Wall PM, Meilinger K, Kelch RP. 1977. Partial trisomy of the long arm of human chromosome 1 as demonstrated by in situ hybridization with 5S ribosomal RNA. Hum Genet 36: 25-33.
23. Van Buggenhout G, De Coen L, Fryns JP. 1998. Partial trisomy 1q (1q32-1qter) in adulthood: Further delineation of the phenotype. Ann Genet 41: 77-81.
24. Wade J, Morgan T, Allanson J. 1989. Child with deletion of 4q and duplication of 1q. Am J Hum Genet 33: 553-554.