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2006 | 47 | 4 |
Tytuł artykułu

De novo isochromosome 18p in a female dysmorphic child

Warianty tytułu
Języki publikacji
EN
Abstrakty
EN
Isochromosome 18p results in tetrasomy 18p. Most of the i(18p) cases reported so far in the literature are sporadic due to de novo formation, while familial and mosaic cases are infrequent. It is a rare chromosomal abnormality, occurring once in every 140 000 livebirths, affecting males and females equally. In the present investigation, we report a de novo i(18p) in a female dysmorphic child. The small metacentric marker chromosome was confirmed as i(18p) in the proband by cytogenetic and FISH analysis [47,XX + i(18p)]. Cytogenetic investigations in the family members revealed normal chromosome numbers, indicating the case as a de novo event of i(18p) formation. It could be due to the somewhat advanced maternal age (32 years) and/or expression of recessive genes in the proband, who is the progeny of consanguineous marriage, which could have led to misdivision and nondisjunction of chromosome 18 in meiosis I, followed by failure in the chromatid separation of 18p in meiosis II and by inverted duplication.
Wydawca
-
Rocznik
Tom
47
Numer
4
Opis fizyczny
p.397-401,fig.,ref.
Twórcy
autor
  • Human Genetics Laboratory, Department of Studies in Zoology, University of Mysore, Manasagangothri, Mysore 570 006, India
autor
  • National Institute for Research in Reproductive Health, Genetic Research Center (GRC-ICMR), J.M. Street, Parel, Mumbai, India
autor
  • Department of Pediatrics, Cheluvamba hospital, Mysore, India
autor
  • Department of Pediatrics, Cheluvamba hospital, Mysore, India
autor
  • National Institute for Research in Reproductive Health, Genetic Research Center (GRC-ICMR), J.M. Street, Parel, Mumbai, India
  • Department of Pediatrics, Cheluvamba hospital, Mysore, India
  • Human Genetics Laboratory, Department of Studies in Zoology, University of Mysore, Manasagangothri, Mysore 570 006, India
Bibliografia
  • Abeliovich D, Dagan J, Levy A, Steinberg A, Zlotogora J, 1993. Isochromosome 18p in a mother and her child. Am J Med Genet 46: 392-393.
  • Back E, Toder R, Voiculescu I, Wildberg A, Schempp W, 1994. De novo isochromosome 18p in two patients: Cytogenetic diagnosis and confirmation by chromosome painting. Clin Genet 45: 301-304.
  • Boyle J, Sangha K, Dill F, Robinson WP, Yong SL, 2001. Grandmaternal origin of an isochromosome 18p present in two maternal half-sisters. Am J Med Genet 101: 65-69.
  • Bugge M, Blennow E, Friedrich U, Petersen MB, Pedeutour F, Tsezou A, 1996. Tetrasomy 18p de novo: parental origin and different mechanisms of formation. Eur J Hum Genet 4: 160-167.
  • Callen DF, Freemantle CJ, Ringenbergs ML, Baker E, Eyre HJ, Romain D, Haan EA, 1990. The isochromosome 18p syndrome: confirmation of cytogenetic diagnosis in nine cases by in situ hybridization. Am J Hum Genet 47: 493-498.
  • Eggermann T, Engels H, Moskalonek B, Nothen MM, Muller-Navia J, Schleiermacher E, et al. 1996. Tetrasomy 18p de novo: identification by FISH with conventional and microdissection probes and analysis of parental origin and formation by short sequence repeat typing. Hum Genet 97: 568-572.
  • Eggermann T, Engels H, Apacik C, Moskalonek B, Muller-Navia J, Schwanitz G, Stengel-Rutkowski S, 1997. Tetrasomy 18p caused by paternal meiotic nondisjunction. Eur J Hum Genet 5: 175-177.
  • Froland A, Holst G and Terslev E, 1963. Multiple anomalies associated with an additional small metacentric chromosome. Cytogenet Cell Genet 2: 99-106.
  • Fryns Jp, Grubben C, van den Berghe H, 1990. Penile enlargement in tetrasomy 18p: an additional feature? Ann Genet 33: 239-240.
  • Fujita K, Fujita HM, 1975. An extra small submetacentric chromosome: possible partial 18 trisomy. Jpn J Hum Genet 19: 371-373.
  • Gocke H, Muradow I, Zerres K, Hansmann M, 1986. Mosaicism of isochromosome 18p: cytogenetic and morphological findings in a male fetus at 21 weeks. Prenat Diagn 6: 151-157.
  • [ISCN] International System for Human Cytogenetic Nomenclature 1995. Mitelman F, ed. Karger publication.
  • Irwin DL, Bryan JL, Chan FY, Matthews PL, Healey SC, Peters M, Findlay I, 2003. Prenatal diagnosis of tetrasomy 18p using multiplex fluorescent PCR and comparison with a variety of techniques. Genetic Testing 7: 1-6.
  • Kotzot D, Bundschere G, Bernasconi F, Brecevic L, Lurie IW, Basaran S, et al. 1996. Isochromosome 18p results from maternal meiosis II nondisjunction. Eur J Hum Genet 4: 168-174.
  • Malini SS, Ramachandra NB, 2006. Influence of advanced age of maternal grandmothers on Down syndrome. BMC Med Genet 7: 4.
  • Pinto MR, Fonseca Silva ML, Ribeiro MC, Pina R, 1998. Prenatal diagnosis of mosaicism for tetrasomy 18p: Cytogenetic, FISH and morphological findings. Prenat Diagn 18: 1095-1097.
  • Rivera H, Moller M, Hernandez A, Enriquez-Guerra MA, Arreola R, Cantu JM, 1984. Tetrasomy 18p: a distinctive syndrome. Ann Genet 27: 187-189.
  • Rothlisberger B, Chrzanowska K, Balmer D, Riegel M, Schinzel A, 2000. A supernumerary marker chromosome originating from two different regions of chromosome 18. J Med Genet 37: 121-124.
  • Schinzel A, 1999. The impact of nondisjunction in humans: Not only numerical Chromosome aberrations, but more. www.biologia.iniba.it/eca/NEWSLETTER/NS-2/2html
  • Seabright M, 1971. A rapid banding technique for human chromosomes. Lancet 2: 971-972.
  • Singer TS, Kohn G, Yatziv S, 1990. Tetrasomy 18p in a child with trisomy 18 phenotype. Am J Med Genet 36: 144-147.
  • Takeda K, Okamura T, Hasegawa T, 1989. Sibs with tetrasomy 18p born to a mother with trisomy 18p. J Med Genet 26: 195-197.
  • Taylor KM, Wolfinger HL, Brown MG, Chadwick Dl, 1975. http://www.cgromosomel8org/syndromes.html. Origin of a small metacentric chromosome: familial and cytogenetic evidence. Clin Genet 8: 364-369.
  • Yu LC, Williams J, Wang BB, Vooijs M, Weier HU, Sakamoto M, Ying KL, 1993. Characterization of i(18p) in prenatal diagnosis by fluorescence in situ hybridization. Prenat Diagn 13: 355-361.
Typ dokumentu
Bibliografia
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Identyfikator YADDA
bwmeta1.element.agro-article-7c959306-b11e-4ad3-811b-400bda32946d
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