Difficulties in prenatal diagnostics trisomy 20 and its mosaic
Authors:
A. Staníková 1; I. Grochová 2; I. Borek 1
Authors place of work:
Neonatologické oddělení FN Brno
primář MUDr. I. Borek
1; Centrum prenatální diagnostiky, Cytogenetická laboratoř, Brno
vedoucí MUDr. P. Vlašín
2
Published in the journal:
Čes-slov Pediat 2012; 67 (6): 390-392.
Category:
Case Report
Summary
Trisomy of chromosome 20 is probably not compatible with life, whereas the mosaic of trisomy 20 belongs to most frequent chromosomal aberrations in general, mostly with a favorable phenotype. Our case report deals with a newborn of prenatally diagnosed complete trisomy 20 in amniocytes. It was not confirmed in peripheral blood after birth. However, subsequent examination of caryotype from buccal mucosa cells as well as the urinary sediment revealed mosaic of trisomy 20. The patient suffers from inborn developmental defect of uropoietic and cardiovascular system.
The aim of the case report is to draw attention to difficulties in the diagnostics of chromosomal aberrations. The prognosis of a specific newborn cannot be precisely defined without a detailed prenatal and, especially, postnatal examination.
Key words:
trisomy 20, mosaicism, chromosomal aberrations, prenatal diagnostics
Zdroje
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3. Joó JG, Beke A, Tóth-Pal E, et al. Trisomy 20 mosaicism and nonmosaic trisomy 20: a report of 2 cases. J Reprod Med 2006; 51: 209–212.
4. Morales C, Cuatrecasas E, Mademont-Soler I, et al. Non-mosaic trisomy 20 of paternal origin in chorionic villus and amniotic fluid also detected in fetal blood and other tissues. Eur J Med Gen 2010; 53: 197–200.
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8. Hsu LYF, Yu MT, Richkind KE. Incidence and significance of chromosome mosaicism involving an autosomal structural abnormality diagnosed preanatally through amniocentesis: A collaborative study. Prenat Diagn 1996; 16: 1–28.
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Štítky
Neonatology Paediatrics General practitioner for children and adolescentsČlánok vyšiel v časopise
Czech-Slovak Pediatrics
2012 Číslo 6
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