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001-es BibID:	BIBFORM074856
Cím:	Recurrent trisomy 21 and uniparental disomy 21 in a family / Zoltán Bán, Bálint Nagy, Csaba Papp, Artúr Beke, Ernő Tóth-Pál, Zoltán Papp
Dátum:	2003
ISSN:	1015-3837
Megjegyzések:	OBJECTIVE:A 32-year-old pregnant woman was referred to our genetic counselling because of recurrent trisomy 21 in the family. Analysis of amniotic fluid cell culture revealed karyotype 47,XY+21 of the fetus.METHODS:Karyotyping and molecular analysis were undertaken in the fetal and parental samples to determine the origin of the extra chromosome 21.RESULTS:Both parents had a normal blood karyotype. Microsatellite marker analysis showed maternal origin of the fetal extra chromosome 21. As the mother showed homozygosity for all investigated markers on chromosome 21, we also tested her family. We detected the same homozygosity in some family members which was consistent with isodisomy of the chromosome 21 caused by uniparental disomy (UPD).CONCLUSIONS:Here we report on a family in which multiple aneuploid conceptions occurred with trisomy 21, and molecular analysis showed that the euploidy of the investigated healthy family members is due to UPD21. This observation stresses the importance of prenatal cytogenetic and molecular analysis in case of parental UPD.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban Trisomy 21 uniparental disomy
Megjelenés:	Fetal Diagnosis and Therapy. - 18 : 6 (2003), p. 454-458. -
További szerzők:	Bán Zoltán (nőgyógyász) Nagy Bálint (1956-) (molekuláris genetikus) Papp Csaba (szülész-nőgyógyász) Beke Artúr (szülész-nőgyógyász) Tóth-Pál Ernő (nőgyógyász) Papp Zoltán (1942-) (szülész-nőgyógyász, genetikus)
Internet cím:	DOI Intézményi repozitóriumban (DEA) tárolt változat
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