Prenatal diagnosis of a fetus affected with down syndrome and deletion 1p36 syndrome by fluorescence in situ hybridization and spectral karyotyping

Fetal Diagnosis and Therapy

Volumn 19, Issue 4, 2004, Pages 356-360

  Hsieh, Lie Jiau ^a   Hsieh, Tsung Che ^a   Yeh, Guang Perng ^a,c   Lin, Meng I ^a   Chen, Ming ^a,b   Wang, Boris Bao Tyan ^a,b  

^a CHANGHUA CHRISTIAN HOSPITAL   (Taiwan)

^b NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

^c CHUNG SHAN MEDICAL UNIVERSITY   (Taiwan)

Author keywords

Choroid plexus cyst; Derivative chromosome; Down syndrome; Fluorescence in situ hybridization; Spectral karyotyping; Trisomy 21

Indexed keywords

AMNIOCENTESIS; CASE REPORT; CHOROID PLEXUS TUMOR; CHROMOSOME 1; CHROMOSOME 1P; CHROMOSOME 21; CHROMOSOME DELETION; CYTOGENETICS; DOWN SYNDROME; FETUS; FETUS OUTCOME; FLUORESCENCE IN SITU HYBRIDIZATION; GENE LOCATION; GENE TRANSLOCATION; HUMAN; HYDROCEPHALUS; MOLECULAR PROBE; PRIORITY JOURNAL; REVIEW; SPECTRAL KARYOTYPING;

ADULT; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 21; DOWN SYNDROME; FEMALE; FETAL DISEASES; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; PREGNANCY; PRENATAL DIAGNOSIS; SPECTRAL KARYOTYPING;

EID: 3042541737     PISSN: 10153837     EISSN: None     Source Type: Journal    
DOI: 10.1159/000077965     Document Type: Review

References (18)

1. Connor JM, Ferguson-Smith MA: Chromosomal disorders; in Connor JM, Ferguson-Smith MA (eds): Essential Medical Genetics, ed 5. Oxford, Blackwell Science, 1997, pp 118-119.
2. Bayani J, Squire JA: Advances in the detection of chromosomal aberrations using spectral karyotyping. Clin Genet 2001;59:65-73.
3. Hain D, Leversha M, Campbell N, Daniel A, Barr PA, Rogers JG: The ascertainment and implications of an unbalanced translocation in the neonate. Familial 1:15 translocation. Aust Paediatr J 1980;16:196-200.
4. Gray JE, Syrett JE, Ritchie KM, Elliot WD: An interstitial translocation: Chromosome 1p to 4. Lancet 1972;ii:92-93.
5. Faivre L, Morichon-Delvallez N, Viot G, Martinovic J, Pinson MP, Aubry JP, Raclin V, Edery P, Dumez Y, Munnich A, Vekemans M: Prenatal detection of a 1p36 deletion in a fetus with multiple malformations and a review of the literature. Prenat Diagn 1999;19:49-53.
6. Wu YQ, Heilstedt HA, Bedell JA, May KM, Starkey DE, McPherson JD, Shapira SK, Shaffer LG: Molecular refinement of the 1p36 deletion syndrome reveals size diversity and a preponderance of maternally derived deletions. Hum Mol Genet 1999;8:313-321.
7. Biegel JA, White PS, Marshall HN, Fujimori M, Zackai EH, Scher CD, Brodeur GM, Emanuel BS: Constitutional 1p36 deletion in a child with neuroblastoma. Am J Hum Genet 1993;52:176-182.
8. Riegel M, Castellan C, Balmer D, Brecevic L, Schinzel A: Terminal deletion, del (1)(p36.3), detected through screening for terminal deletions in patients with unclassified malformation syndromes. Am J Med Genet 1999;82:249-253.
9. Fitzsimmons J, Wilson D, Pascoe-Mason J, Shaw CM, Cyr DR, Mack LA: Choroid plexus cysts in fetuses with trisomy 18. Obstet Gynecol 1989;73:257-260.
10. Kupferminc MJ, Tamura RK, Sabbagha RE, Parilla BV, Cohen LS, Pergament E: Isolated choroid plexus cyst(s): An indication for amniocentesis. Am J Obstet Gynecol 1994;171:1068-1071.
11. Gross SJ, Shulman LP, Tolley EA, Emerson DS, Felker RE, Simpson JL, Elias S: Isolated fetal choroid plexus cysts and trisomy 18: A review and meta-analysis. Am J Obstet Gynecol 1995;172:83-87.
12. Hung KL, Liao HT: Neonatal choroid plexus cysts and early childhood developmental outcome. J Formos Med Assoc 2002;101:43-47.
13. Brown T, Kliewer MA, Hertzberg BS, Ruiz C, Stamper TH, Rosnes J, Lucas A, Wright LN, Chescheir NC, Farmer L, Jordan S, Kay HH: A role for maternal serum screening in detecting chromosomal abnormalities in fetuses with isolated choroid plexus cysts: A prospective multicentre study. Prenat Diagn 1999;19:405-410.
14. Yoder PR, Sabbagha RE, Gross SJ, Zelop CM: The second-trimester fetus with isolated choroid plexus cysts: A meta-analysis of risk of trisomies 18 and 21. Obstet Gynecol 1999;93:869-872.
15. Apodaca CC, Hume RF Jr, Evans WJ, Martin LS, Evans MI, Calhoun BC: Parental decisionmaking differences between patients in two healthcare systems for choroid plexus cysts. Aust NZ J Obstet Gynaecol 2000;40:427-429.
16. Ghidini A, Strobelt N, Locatelli A, Mariani E, Piccoli MG, Vergani P: Isolated fetal choroid plexus cysts: Role of ultrasonography in establishment of the risk of trisomy 18. Am J Obstet Gynecol 2000;182:972-977.
17. Dominguez MG, Rivera H, Vasquez AI, Hernandez-Zaragoza G, Rivas F: Interchange trisomy 21 by t(1;21)(p22;q22)mat. Genet Couns 2001;12:363-367.
18. Jyothy A, Kumar KS, Mallikarjuna GN, Babu Rao V, Uma Devi B, Sujatha M, Reddy PP: Parental age and the origin of extra chromosome 21 in Down syndrome. J Hum Genet 2001;46:347-350.