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http://dx.doi.org/10.5734/JGM.2011.8.2.135

Prenatal Diagnosis of a Satellited Chromosome 8p Results from a de novo Cryptic Translocation between Chromosomes 8 and 22  

Oh, Ah-Rum (Laboratory of Medical Genetics, Cheil Medical Research Institute, Cheil General Hospital and Women's Healthcare Center)
Lee, Bom-Yee (Laboratory of Medical Genetics, Cheil Medical Research Institute, Cheil General Hospital and Women's Healthcare Center)
Choi, Ene-Yuong (Laboratory of Medical Genetics, Cheil Medical Research Institute, Cheil General Hospital and Women's Healthcare Center)
Ryu, Hyun-Mee (Laboratory of Medical Genetics, Cheil Medical Research Institute, Cheil General Hospital and Women's Healthcare Center)
Lee, Seung-Jae (Miraewaheemang Obsterics and Gynecology)
Jung, Ji-Ye (Miraewaheemang Obsterics and Gynecology)
Park, So-Yeon (Laboratory of Medical Genetics, Cheil Medical Research Institute, Cheil General Hospital and Women's Healthcare Center)
Publication Information
Journal of Genetic Medicine / v.8, no.2, 2011 , pp. 135-138 More about this Journal
Abstract
The authors of the present study report the prenatal detection of a chromosomal abnormality with additional satellites on the distal short arm of chromosome 8. A 35-year-old woman was referred for amniocentesis because of her advanced maternal age and positive result for maternal serum screening test. Cytogenetic analysis of cultured amniocytes showed a satellite 8p chromosome. The satellite 8p chromosome was positive for nucleolus organizer region (NOR) staining. The parents' karyotypes were normal. Fluorescence in situ hybridization (FISH) study for metaphases of fetal amniocytes revealed a cryptic translocation of chromosomes 8p and 22p. The fetal karyotype was described as 46,XY,8ps.ish t(8;22)(p23.3;p11.2) (D8S504-;D8S504+)dn. The parents decided to continue the pregnancy and a phenotypically normal boy was born at 38 weeks of gestation. In case of de novo terminal NORs detected prenatally, more accurate cytogenetic and molecular analysis should be performed in order to rule out cryptic chromosomal rearrangement among other chromosomes.
Keywords
Satellited chromosome; Prenatal de novo translocation; 8ps;
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1 Engelen JJ, Moog U, Evers JL, Dassen H, Albrechts JC, Hamers AJ. Duplication of chromosome region 8p23.1--> p23.3; a benign variant? Am J Med Genet 2000;91:18-21.   DOI   ScienceOn
2 de Pater JM, Govaerts LC, de Man SA, van der Sijs-Bos CJ, Christiaens GC, van Dam WM et al. Prenatal detection of complex chromosomal aberrations using advanced molecular cytogenetic techniques. Prenat Diagn 2003;23: 747-51.   DOI   ScienceOn
3 Sanger TM, Olney AH, Zaleski D, Pickering D, Nelson M, Sanger WG et al. Cryptic duplication and deletion of 9q 34.3--> qter in an family with a t(9;22)(q34.3;p11.2). Am J Med Genet A 2005;138:51-5.
4 Ki A, Rauen KA, Black LD, Kostiner DR, Sandberg PL, Pinkel D et al. Ring 21 chromosome and a satellite 1p in the same patient: novel origin for an ectopic NOR. Am J Med Genet A 2003;120A:365-9.   DOI
5 Chen CP, Devriendt K, Chern SR, Lee CC, Wang W, Lin SP. Prenatal diagnosis of inherited satellite non-acrocentric chromosomes. Prenat Diagn 2000;20:384-9.   DOI   ScienceOn
6 Chen CP, Chern SR, Lee CC, Chen WL, Wang W. Prenatal diagnosis of interstitially satellited 6p. Prenat Diagn 2004;24:430-33.   DOI   ScienceOn
7 Henman E. Wyandt and Vijay S. Tonk. Atlas of human chromosome heteromorphisms. 2004 Kluwer Academic Publishers 230p, 267p
8 Prontera P, Aiello V, Toschi M, Turci A, Gruppioni R, Buldrini B et al. Prenatal diagnosis of a de novo satellite chromosome 18 (18ps) associated with 18p deletion. Genet Couns 2007;18:309-15
9 Rujirabanjerd S, Suwannarat W, Sripo T, Dissaneevate P, Permsirivanich W, Limprasert P. De novo subtelomeric deletion of 15q associated with satellite translocation in a child with developmental delay and severe growth retardation. Am J Med Genet A 2007;143:271-6.
10 Faivre L, Radford I, Viot G, Edery P, Munnich A et al. Cerebellar ataxia and mental retardation in a child with an inherited satellite chromosome 4q. Ann Genet 2000; 43:35-8.   DOI   ScienceOn
11 Fan YS, Siu VM. Molecular cytogenetic characterization of a derivative chromosome 8 with an inverted duplication of 8p21.3-->p23.3 and a rearranged duplication of 8q 24.13-->qter. Am J Med Genet 2001;102;266-71.   DOI   ScienceOn
12 Kanafani S, Aboura A, Pipiras E, Carbillon L, Tabet AC, Largilliere C et al. Semilobar horoprosencephaly prenatal diagnosis: an unexpected complex rearrangement in a de novo apparently balanced reciprocal translocation on karyotype. Prenat Diagn 2007;27:279-84.   DOI   ScienceOn
13 Basinko A, Douet-Guilbert N, Le Bris MJ, Parent P, Ansquer H, morel F et al. Molecular cytogenetic characterization of an 8p23-8p23.2 duplication derived from a maternal intrachromosomal insertion in a child with congenital heart malformation, delayed puberty, and learning disabilities. Am J Med Genet A 2008;146A:2950-4.   DOI   ScienceOn