Recenzija, Prikaz slučaja

Supravalvular aortic stenosis and peripheral pulmonary stenosis in family with balanced translocation T(7;14) and break point within the elastin gene region

Ivan Malčić ; Department of Paediatric Cardiology, University Hospital Center, Zagreb, Croatia
Daniel Dilber ; Department of Paediatric Cardiology, University Hospital Center, Zagreb, Croatia
Hrvoje Kniewald ; Department of Paediatric Cardiology, University Hospital Center, Zagreb, Croatia
Ružica Lasan ; Department of Paediatric Genetic, University Hospital Center, Zagreb, Croatia
Davor Begović ; Department of Paediatric Cardiology, University Hospital Center, Zagreb, Croatia
Marija Jelušić ; Department of Paediatric Cardiology, University Hospital Center, Zagreb, Croatia

Sažetak

We present a family form of balanced translocation t(7;14) found in a mother and her two sons. The mother had an aortic cardiac murmur, without hemo-dynamic repercussions and the children had almost identical clinical findings, significant supravalvular aortic stenosis, left ventricle intracavitary stenosis and multiple peripheral pulmonary stenosis but with no other clinical manifestations of Williams-Beuren syndrome, except, perhaps, a deep, metallic voice.
The conventional chromosome analysis unexpectedly revealed a balanced translocation between chromosomes 7 and 14, the same translocation was found in the mother and both children.
Subsequent fluorescent in situ hybridization analysis with WSCR probe showed that the break point was within the elastin gene region in the proband, in the mother and both children. The proband karyotype was interpreted, according to ISCN (2005) as 46,XY,t(7;14)(q11.23;p12).isht(7;14)(D7Z1+,ELNsp;D14Z1/D22Z1+,ELNsp+)mat, in other words, translocation had disrupted the elastin region and may have contributed to the developmental defects in Williams-Beuren syndrome.
When going through the references on genetic examination of supravalvular aortic stenosis,
Williams-Beuren syndrome and some other conditions that could not be placed in any of these two terminal categories because of the various phenotype characteristics, we found that such a result has not yet been published.

Ključne riječi

AORTIC STENOSIS, SUPRAVALVULAR - complications, genetics; PULMONARY VALVE STENOSIS - complications, gentics; CHROMOSOMES, HUMAN, PAIR 7 - genetics; CHROMOSOMES, HUMAN, PAIR 14 - genetics; TRANSLOCATION, GENETIC; ELASTIN - genetics

Hrčak ID:

29548

URI

https://hrcak.srce.hr/29548

Datum izdavanja:

8.8.2008.

Podaci na drugim jezicima: hrvatski

Posjeta: 3.708 *