Clinical, cytogenetic, and molecular findings of prenatally diagnosed mosaic trisomy 4

Prenatal Diagnosis

Volumn 24, Issue 1, 2004, Pages 38-44

  Chen, Chih Ping ^a,b   Chern, Schu Rern ^a   Lee, Chen Chi ^a   Chang, Tung Yao ^a   Wang, Wayseen ^a   Tzen, Chin Yuan ^a  

^a MACKAY MEMORIAL HOSPITAL   (Taiwan)

^b NATIONAL YANG MING UNIVERSITY   (Taiwan)

Author keywords

Amniocentesis; Mosaic trisomy 4; Prenatal diagnosis; Tetralogy of Fallot; Trisomy 4

Indexed keywords

AMNIOCENTESIS; AMNION; ARTICLE; BIPARENTAL INHERITANCE; CASE REPORT; CHROMOSOME 4; CLINICAL FEATURE; CLINODACTYLY; CYTOGENETICS; EAR MALFORMATION; FALLOT TETRALOGY; FATHER; FEMALE; FETUS; FETUS BLOOD SAMPLING; FETUS ECHOGRAPHY; GENE DOSAGE; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; HYPERTELORISM; INHERITANCE; KARYOTYPE 46,XX; KARYOTYPE 47,XX; LIVER; LUNG; MEIOSIS; MICROGNATHIA; MOSAIC TRISOMY 4; MOSAICISM; NONDISJUNCTION; PATERNAL MEIOSIS I NONDISJUNCTION; PLACENTA; POLYDACTYLY; POLYMERASE CHAIN REACTION; PREGNANCY TERMINATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RISK; SAMPLING; SKIN; THUMB MALFORMATION; TOE MALFORMATION; TRISOMY; UMBILICAL CORD; UMBILICAL CORD BLOOD;

ABORTION, INDUCED; ADULT; AMNIOCENTESIS; CHROMOSOMES, HUMAN, PAIR 4; DIAGNOSIS, DIFFERENTIAL; FEMALE; HUMANS; MOSAICISM; PREGNANCY; PREGNANCY TRIMESTER, SECOND; PRENATAL DIAGNOSIS; TRISOMY; ULTRASONOGRAPHY, PRENATAL;

EID: 1042302042     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/pd.792     Document Type: Article

References (19)

1. Bartels I, Hansmann I. 1986. Trisomy 4 due to nondisjunction during maternal meiosis II. Clin Genet 30: 142.
2. Biederman B, Bowen P. 1976. Partial trisomy 4q due to familial 2/4 translocation. Hum Genet 33: 147-153.
3. Cooper LF, Wang Jabs E. 1990. Chromosome 4, trisomy 4p, trisomy distal 4q. In Birth Defects Encyclopedia, Buyse ML (ed.). Blackwell Scientific Publications: Cambridge; 337-338.
4. Darmady JM, Seabright M. 1975. A family with an inherited translocation involving the No.4/No.21 chromosomes. J Med Genet 12: 408-411.
5. Hassold T. 1982. Mosaic trisomies in human spontaneous abortions. Hum Genet 61: 31-35.
6. Hassold T, Abbruzo M, Adkins K, et al. 1996. Human aneuploidy: incidence, origin and etiology. Environ Mol Mutagen 28: 168-175.
7. Hassold T, Chiu D, Yamane J. 1984. Parental origin of autosomal trisomies. Ann Hum Genet 48: 129-144.
8. Hsu LYF, Yu MT, Neu RL, et al. 1997. Rare trisomy mosaicism diagnosed in amniocytes, involving an autosome other than chromosomes 13, 18, 20, and 21: Karyotype/phenotype correlations. Prenat Diagn 17: 201-242.
9. Kuchinka BD, Barrett IJ, Moya G, et al. 2001. Two cases of confined placental mosaicism for chromosome 4, including one with maternal uniparental disomy. Prenat Diagn 21: 36-39.
10. Lundin C, Zech L, Sjörs K, Wadelius C, Annerén G. 2002. Trisomy 4q syndrome: presentation of a new case and review of the literature. Ann Genet 45: 53-57.
11. Marion JP, Fernhoff PM, Korotkin J, Priest JH. 1990. Pre- and postnatal diagnosis of trisomy 4 mosaicism. Am J Med Genet 37: 362-365.
12. Patel SV, Dagnew H, Parekh AJ, et al. 1995. Clinical manifestations of trisomy 4p syndrome. Eur J Pediatr 154: 425-431.
13. Robinson WP, Bernasconi F, Lau A, McFadden DE. 1999. Frequency of meiotic trisomy depends on involved chromosome and mode of ascertainment. Am J Med Genet 84: 34-42.
14. Robinson WP, McFadden DE, Barrett IJ, et al. 2002. Origin of amnion and implications for evaluation of the fetal genotype in cases of mosaicism. Prenat Diagn 22: 1076-1085.
15. Schinzel A. 1983. Catalogue of Unbalanced Chromosome Aberrations in Man, de Gruter: Berlin; 179-190, 208-220.
16. Van Allen MI, Ritchie S, Toi A, Fong K, Winsor E. 1993. Trisomy 4 in a fetus with cyclopia and other anomalies. Am J Med Genet 46: 193-197.
17. Wieczorek D, Prott EC, Robinson WP, Passarge E, Gillessen-Kaesbach G. 2003. Prenatally detected trisomy 4 and 6 mosaicism-cytogenetic results and clinical phenotype. Prenat Diagn 23: 128-133.
18. Wilson MG, Towner JW, Coffin GS, et al. 1970. Inherited pericentric inversion of chromosome No.4. Am J Hum Genet 22: 679-690.
19. Zaslav AL, Blumenthal D, Willner JP, Piemo G, Jacob J, Fox JE. 2000. Prenatal diagnosis of trisomy 4 mosaicism. Am J Med Genet 95: 381-384.