Prenatal diagnosis of occipital encephalocele, mega-cisterna magna, mesomelic shortening, and clubfeet associated with pure tetrasomy 20p

Prenatal Diagnosis

Volumn 23, Issue 2, 2003, Pages 124-127

  Wu, Yi Cheng ^a,b   Fang, Jye Siung ^d   Lee, Kuei Fang ^d   Estipona, Judy ^c   Yang, Man Li ^a,b   Yuan, Chiou Chung ^a,b  

^a TAIPEI VETERANS GENERAL HOSPITAL   (Taiwan)

^b NATIONAL YANG MING UNIVERSITY   (Taiwan)

^c MENNONITE CHRISTIAN HOSPITAL   (Taiwan)

^d BUDDHIST TZU CHI GENERAL HOSPITAL   (Taiwan)

Author keywords

Isochromosome 20p; Prenatal diagnosis; Pure tetrasomy 20p; Tetrasomy 20p

Indexed keywords

ADULT; ARTICLE; AUTOPSY; CASE REPORT; CHROMOSOME G BAND; CISTERNA MAGNA; CLUBFOOT; ENCEPHALOCELE; FEMALE; FETUS; FLUORESCENCE IN SITU HYBRIDIZATION; GESTATIONAL AGE; HUMAN; KARYOTYPE; METAPHASE; OLIGOHYDRAMNIOS; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; TETRASOMY; UMBILICAL CORD BLOOD;

ABNORMALITIES, MULTIPLE; ABORTION, EUGENIC; ADULT; ANEUPLOIDY; CHROMOSOME BANDING; CHROMOSOMES, HUMAN, PAIR 20; CISTERNA MAGNA; CLUBFOOT; ENCEPHALOCELE; FEMALE; FETAL BLOOD; HUMANS; ISOCHROMOSOMES; LYMPHOCYTES; PREGNANCY; PREGNANCY TRIMESTER, SECOND; PRENATAL DIAGNOSIS; SPECTRAL KARYOTYPING;

EID: 0037327216     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/pd.543     Document Type: Article

References (25)

1. Afzal AR, Rajab A, Fenske C, et al. 2000. Linkage of recessive Robinow syndrome to a 4 cM interval on chromosome 9q22. Hum Genet 106: 351-354.
2. Batista DAS, Escallon C, Blakemore KJ, Stetten G. 1995. An accessory marker derived from chromosome 20 and its co-existence with a mosaic trisomy 20 cell line. Prenat Diagn 15: 123-127.
3. Blennow E, Annerén G, Bui TH, Berggren E, Asadi E, NordenskjÖld M. 1993. Characterization of supernumerary ring marker chromosomes by fluorescence in situ hybridization (FISH). Am J Hum Genet 53: 433-442.
4. Blennow E, Bui TH, Kristoffersson U, et al. 1994. Swedish survey on extra structurally abnormal chromosomes in 39105 consecutive prenatal diagnoses: prevalence and characterization by fluorescence in situ hybridization. Prenat Diagn 14: 1019-1028.
5. Buckton KE, Spowart G, Newton MS, Evans HJ. 1985. Forty-four probands with additional 'marker' chromosome. Hum Genet 69: 353-370.
6. Callen DF, Ringenbergs ML, Freemantle CJ, Woodroffe P, Haan EA. 1991. Chromosomal origin of small ring marker chromosomes in man: characterization by molecular genetics. Am J Hum Genet 48: 769-782.
7. Chen CP, Liu FF, Jan SW, Wang KG, Lan CC. 1996. Prenatal diagnosis of partial monosomy 13q associated with occipital encephalocele in a fetus. Prenat Diagn 16: 664-666.
8. Fryns JP. 1995. The concurrence of the blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) and Langer type of mesomelic dwarfism in the same patient. Evidence of the location of Langer type of mesomelic dwarfism at 3q22.3-q23?. Clin Genet 48: 111-112.
9. Fujimoto M, Kantaputra PN, Ikegawa S, et al. 1998. The gene for mesomelic dysplasia Kantaputra type is mapped to chromosome 2q24-q32. J Hum Genet 43: 32-36.
10. Hersh JH, Angle B, Fox TL, Barth RF, Bendon RW, Gowans G. 2002. Developmental field defects: coming together of associations and sequences during blastogenesis. Am J Med Genet 110: 320-323.
11. Lurie IW, Ilyina HG, Gurevich DB, et al. 1995. Trisomy 2p: analysis of unusual phenotypic findings. Am J Med Genet 55: 229-236.
12. Nielsen J, Wohlert M. 1991. Chromosome abnormalities found among 34910 newborn children: results from a 13-year incidence study in Arhus, Denmark. Hum Genet 87: 81-83.
13. Oppenheimer S, Dignan P, Soukup S. 2000. Partial trisomy 20p: familial occurrence. Am J Med Genet 95: 316-319.
14. Pallister PD, Hermann J, Meisner LF, Inhorn SI, Opitz JM. 1976. Letter: trisomy 20 syndrome in man. Lancet 1: 431.
15. Rodriguez JI, Garcia M, Morales C, Morillo A, Delicado A. 1990. Trisomy 13 syndrome and neural tube defects. Am J Med Genet 36: 513-516.
16. Rosenberg M, Hui L, Ma J, et al. 1997. Characterization of short tandem repeats from thirty-one human telomeres. Genome Res 7: 917-923.
17. Roume J, Genin E, Cormier-Daire V, et al. 1998. A gene for Meckel syndrome maps to chromosome 11q13. Am J Hum Genet 63: 1095-1101.
18. Sachs ES, Van Hemel JO, Den Hollander JC, Jahoda MGJ. 1987. Marker chromosomes in a series of 10000 prenatal diagnoses. Cytogenetic and follow up studies. Prenat Diagn 7: 81-89.
19. Sertie AL, Quimby M, Moreira ES, et al. 1996. A gene which causes severe ocular alterations and occipital encephalocele (Knobloch syndrome) is mapped to 21q22.3. Hum Mol Genet 5: 843-847.
20. Sidwell RU, Pinson MP, Gibbons B, et al. 2000. Pure trisomy 20p resulting from isochromosome formation and whole arm translocation. J Med Genet 37: 454-458.
21. Taylor KM, Wolfinger HL, Brown MG, Chadwick DL, Francke U. 1976. Partial trisomy 20p derived from a t(18;20) translocation. Hum Genet 34: 155-162.
22. van Bokhoven H, Celli J, Kayserili H, et al. 2000. Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome. Nat Genet 25: 423-426.
23. Van Langen IM, Otter MA, Aronson DC, et al. 1996. Supernumerary ring chromosome 20 characterized by fluorescence in situ hybridization. Clin Genet 49: 49-53.
24. Viersbach R, Engels H, Schwanitz G. 1997. Identification of Supernumerary der (20) chromosomes by FISH in three patients. Am J Med Genet 70: 278-283.
25. Warburton D. 1991. De novo balanced chromosome identified at prenatal diagnosis: clinical significance and distribution of breakpoints. Am J Hum Genet 49: 995-1013.