1/4. A congenital left ventricular diverticulum combined with a complex malformation syndrome.Congenital left ventricular diverticulum is rare and usually isolated or associated with midline thoracoabdominal defects and other congenital cardiac malformations. We describe a case with a previously undescribed malformation syndrome including bilateral obstruction of the ureteropelvic junction, agenesis of corpus callosus, scoliosis, hip dysplasia, severe developmental delay, failure to thrive and congenital left ventricular diverticulum but with normal GTG-banded karyotype. The cardiac lesion was suspected on echocardiography and was confirmed by cineangiography, which outlined a huge apical diverticulum opening through a wide ostium into the left ventricular cavity. To our knowledge this case report is the first description of an association with such a malformation syndrome.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
2/4. Congenital knee dislocation in a 49,XXXXY boy.We report on a 12 year old mentally retarded boy who presented at birth with bilateral knee dislocations, dislocation of the right hip, and general joint laxity. Cytogenetic studies showed a 49,XXXXY karyotype. Hyperlaxity of joints is known to occur in 49,XXXXY patients, but congenital knee dislocation has not been reported. Rarely in 49,XXXXY and 49,XXXXX syndromes Larsen-like features may be seen. patients with congenital joint dislocation or laxity, combined with other malformations, especially if psychomotor development is delayed, should be karyotyped to exclude chromosomal abnormalities.- - - - - - - - - - ranking = 2keywords = karyotype (Clic here for more details about this article) |
3/4. 46,XY/48,XYYY mosaicism case report and review of the literature.A 46,XY (18.9%)/48,XYYY (81.1%) mosaicism in lymphocytes and a 48,XYYY karyotype in skin fibroblasts were found in a 37-year-old obese man suffering from dysplasia of the right hip. As other reported cases, he showed mental retardation and behaviour disturbances with agressiveness, sexual impulsions. Testicular biopsy revealed fibrohyalinization in about 10% of the tubules and subnormal spermatogenesis in the others.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
4/4. trisomy 10qter confirmed by in situ hybridisation.We report a boy with multiple congenital anomalies compatible with trisomy for the distal region of the long arm of chromosome 10 and a male karyotype with one 18p . In situ hybridisation with a cDNA for ornithine aminotransferase (OAT), whose locus maps to 10q26, confirmed the clinical suspicion of distal trisomy 10q. Subterminal localisation of the labelling signals on chromosome 10 and on the der(18) indicated the localisation of the OAT locus in the proximal part of 10q26. Two clusters of labelling signals were also found on the pericentromeric and proximal portion of the x chromosome short arm, thus confirming the presence in this region of two non-adjacent OAT pseudogenes. The phenotypic similarities of this patient to previously reported cases provide further support for the delineation of trisomy 10qter as a specific, clinically recognisable syndrome.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |