Prenatal diagnosis of de novo trisomy 1(q21-qter)der(Y)t(Y;1) in a malformed live born

Prenatal Diagnosis

Volumn 24, Issue 6, 2004, Pages 414-417

  Fernandez Novoa M C ^a,c   Vargas, M T ^a   Granell, M R ^b   Carreto, P ^b  

^a H V De la Macarena   (Spain)

^b Servicio de Obstetricia y Ginecología   (Spain)

^c Lab de Genética Molecular   (Spain)

Author keywords

der(Y)t(Y; 1); Prenatal diagnosis; Trisomy 1q

Indexed keywords

AMNIOCENTESIS; ARTICLE; CASE REPORT; CHROMOSOME 1Q; CHROMOSOME ANALYSIS; CHROMOSOME BANDING PATTERN; CHROMOSOME MOSAICISM; CLINICAL FEATURE; CONGENITAL MALFORMATION; FETUS; FETUS (ANATOMY); FETUS ECHOGRAPHY; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC COUNSELING; GESTATIONAL AGE; HUMAN; MALE; PARTIAL TRISOMY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROGNOSIS; SYNDROME DELINEATION; TRISOMY;

ABNORMALITIES, MULTIPLE; AMNIOCENTESIS; CHROMOSOME BANDING; CHROMOSOMES, HUMAN, PAIR 1; CHROMOSOMES, HUMAN, Y; FEMALE; GESTATIONAL AGE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MALE; PREGNANCY; PRENATAL DIAGNOSIS; PROGNOSIS; TRANSLOCATION, GENETIC; TRISOMY; ULTRASONOGRAPHY, PRENATAL;

EID: 3042701280     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/pd.847     Document Type: Article

References (9)

1. Fryns JP, Kleczkowska A, Moerman PH, Van Den Berghe K, Van Den Berghe H. 1987. Double autosomal trisomy (1q21.2->qter and 14pter->q13) in a female fetus with nuchal oedema. Ann Genet 30: 240-242.
2. Pettenati MJ, Berry M, Shashi V, Bowen JH, Harper M. 2001. Prenatal diagnosis of complete sole trisomy 1q. Prenat Diagn 21: 435-440.
3. 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.
4. Schinzel A. 2001. Catalogue of Unbalanced Chromosome Aberrations in Man. Walter de Gruyter Co: Berlin, New York.
5. Schwartz S, Raffel LJ, Sun CCJ, Waters E. 1992. An unusual mosaic karyotype detected through prenatal diagnosis with duplication of 1q and 19p and associated teratoma development. Teratology 46: 399-404.
6. Stevenson RE, Phelan MC, Harley RA, Hamilton TB. 1985. Vascular steal: a proposed mechanism for certain skeletal, visceral, and soft tissue malformations. Proc Greenwood Genet Center 4: 16-121.
7. Van Buggenhout G, Cooreman G, Thienpont L, Fryns JP. 1995. Early urethral obstruction sequence and trisomy of the long arm of chromosome 1. Ann Genet 38: 106-107.
8. Watson WJ, Katz VL, Albright SG, Rao KW, Aylsworth AS. 1990. Monozygotic twins discordant for partial trisomy 1. Obstet Gynecol 76: 949-951.
9. Wax JR, Benn P, Steinfeld JD, Ingardia CJ. 2000. Prenatally diagnosed sacrococcygeal teratoma: a unique expression of trisomy 1q. Cancer Genet Cytogenet 117: 84-86.