Mosaic trisomy 8 detected by fibroblasts cultured of skin
Article Sidebar
Main Article Content
Introduction:
Mosaic trisomy 8 or "Warkany's Syndrome" is a chromosomopathy with an estimated prevalance of 1:25,000 to 1:50,000, whose clinical presentation has a wide phenotypic variability.
Case Description:
Patient aged 14 years old with antecedents of global retardation of development, moderate cognitive deficit and hypothyroidism of possible congenital origin.
Clinical Findings:
Physical examination revealed palpebral ptosis, small corneas and corectopia, hypoplasia of the upper maxilla and prognathism, dental crowding, high-arched palate, anomalies of the extremities such as digitalization of the thumbs, clinodactyly and bilateral shortening of the fifth finger, shortening of the right femur, columnar deviation and linear brown blotches that followed Blaschko's lines. Cerebral nuclear magnetic resonance revealed type 1 Chiari's malformation and ventriculomegaly. Although the karyotype was normal in peripheral blood (46,XY), based on the finding of cutaneous mosaicism the lesions were biopsied and cytogenetic analysis demonstrated mosaic trisomy 8: mos 47,XY,+8[7]/46,XY[93].
Clinical Relevance:
Trisomy 8 is clinically presented as a mosaic, universal cases being unfailingly lethal. In this particular case, cutaneous lesions identified the mosaic in tissue, although the karyotype was normal in peripheral blood. The cutaneous mosaicism represented by brown linear blotches which follow Blaschko's lines is a clinical finding that has not previously been described in Warkany's syndrome.
- Mosaicism
- Trisomy 8
- Cutaneous anomalies
- Intellectual disability
Wisniewska M, Mazurek M. Trisomy 8 mosaicism syndrome. J Appl Genet. 2002;43(1):115–118.
Gtniin R, Cohen M, Levin L. Syndromes of the head and neck. 3th. New York: Oxford University Press; 1990.
Campbell S, Mavrides E, Prefumo F, Presti F, Carvalho JS. Prenatal diagnosis of mosaic trisomy 8 in a fetus with normal nuchal translucency thickness and reversed end-diastolic ductus venosus flow. Ultrasound Obstet Gynecol. 2001;17(4):341–343. DOI: https://doi.org/10.1046/j.1469-0705.2001.00393.x
Mellado C, Moreno R, López F, Sanz P, Castillo S, Villaseca C, et al. Trisomia 8reporte de cuatro casos . Rev Chil Pediatr. 1997;68(2):93–98. DOI: https://doi.org/10.4067/S0370-41061997000200007
Robinson WP, Binkert F, Bernasconi F, Lorda-Sanchez I, Werder EA, Schinzel AA. Molecular studies of chromosomal mosaicism: relative frequency of chromosome gain or loss and possible role of cell selection. Am J Hum Genet. 1995;56(2):444–451.
Kosztolànyi G, Bühler EM, Elmiger P, Stalder GR. Trisomy 8 mosaicism. A case report and a proposed list of the clinical features. Eur J Pediatr. 1976;123(4):293–300. DOI: https://doi.org/10.1007/BF00444650
James RS, Jacobs PA. Molecular studies of the aetiology of trisomy 8 in spontaneous abortions and the liveborn population. Hum Genet. 1996;97(3):283–286. [PubMed] DOI: https://doi.org/10.1007/BF02185754
Riccardi VM. Trisomy 8: an international study of 70 patients. Birth Defects Orig Artic Ser. 1977;13(8):171–184.
Bolognia JL, Orlow SJ, Glick SA. Lines of Blaschko. J Am Acad Dermatol. 1994;31:157–190. [PubMed] DOI: https://doi.org/10.1016/S0190-9622(94)70143-1
Agrawal A, Agrawal R. Warkany syndrome: a rare case report. Case Rep Pediatr. 2011;2011:437101–437101. DOI: https://doi.org/10.1155/2011/437101
Basaran SY, Sensoy V, Kiroglu K, Messiaen L, Tuysuz B. Coexistence of neurofibromatosis type 1 and mosaic trisomy 8 in the same patient. Genet Couns. 2010;21(3):307–316.
Kurtyka ZE, Krzykwa B, Piatkowska E, Radwan M, Pietrzyk JJ. Trisomy 8 Mosaicism Syndrome: Two Cases Demonstrating Variability in Phenotype. Clinical Pediatrics. 1988;27(11):557–564. DOI: https://doi.org/10.1177/000992288802701109
Fineman RM, Ablow RC, Howard RO, Albright J, Breg WR. Trisomy 8 mosaicism syndrome. Pediatrics. 1975;56(5):762–767. DOI: https://doi.org/10.1542/peds.56.5.762
Rauen KA, Golabi M, Cotter PD. Fertility in a female with mosaic trisomy 8. Fertil Steril. 2003;79(1):206–208. DOI: https://doi.org/10.1016/S0015-0282(02)04410-2
Iwatani S, Takeoka E, Mizobuchi M, Yoshimoto S, Iwaki R, Bitoh Y, et al. Trisomy 8 mosaicism with pyloric atresia and situs ambiguous. Pediatr Int. 2014;56(6):938–939. DOI: https://doi.org/10.1111/ped.12519
Gómez A, Acosta J, Zarante I. Trisomia parcial del cromosoma 8: Reporte de caso y revisión de la literatura. Latin Am J Dysmorphol. 2010;23(4):13–16.
Hulley BJ, Hummel M, Cook LL, Boyd BK, Wenger SL. Trisomy 8 mosaicism: selective growth advantage of normal cells vs. growth disadvantage of trisomy 8 cells. Am J Med Genet A. 2003;116A(2):144–146. DOI: https://doi.org/10.1002/ajmg.a.10651
Woods CG, Bankier A, Curry J, Sheffield LJ, Slaney SF, Smith K, et al. Asymmetry and skin pigmentary anomalies in chromosome mosaicism. J Med Genet. 1994;31(9):694–701. DOI: https://doi.org/10.1136/jmg.31.9.694
Kouzak SS, Mendes MS, Costa IM. Cutaneous mosaicisms: concepts, patterns and classifications. An Bras Dermatol. 2013;88(4):507–517. DOI: https://doi.org/10.1590/abd1806-4841.20132015
Robberecht C, Voet T, Utine GE, Schinzel A, de Leeuw N, Fryns JP, et al. Meiotic errors followed by two parallel postzygotic trisomy rescue events are a frequent cause of constitutional segmental mosaicism. Mol Cytogenet. 2012;5:19–19. DOI: https://doi.org/10.1186/1755-8166-5-19
Downloads
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
The copy rights of the articles published in Colombia Médica belong to the Universidad del Valle. The contents of the articles that appear in the Journal are exclusively the responsibility of the authors and do not necessarily reflect the opinions of the Editorial Committee of the Journal. It is allowed to reproduce the material published in Colombia Médica without prior authorization for non-commercial use