A RARE COMBINATION OF PARTIAL TRISOMY-9 A ND PULMONARY ATRESIA

We report of an previously unpublished combination of partial trisomy 9 and a membranous pulmonary atresia with a large conotruncal ventricu lar septal defect. The dystrophic female, term newborn presented after delivery with microcephaly, prominent nose and several other facial a nd skeletal deformities. The echocardiography and angiography showed a membranous pulmonary atresia with ventricular septal defect. Chromoso mal analysis revealed a partial trisomy of the short arm with parts of the long arm of chromosom 9 and a small part of the long arm of chrom osom 4. A surgical repair of the heart defect was not performed by the known high risk of severe mental retardation of partial trisomy 9. Th e child died at the age of six months.