1/4. Molecular and clinical characterization of a patient with duplication of 1p36.3 and metopic synostosis.Chromosome 1p duplications are rare. There have been only 11 reported cases of isolated 1p duplication, all of which were proximal, interstitial duplications. We present a patient with a terminal duplication of 1p (1p36.3). To our knowledge, this is the first such reported case. Our patient presented with metopic synostosis, rectal stenosis, atrial septal defect, and mildly delayed gross motor development. Molecular characterization using microsatellite marker analysis and fluorescence in situ hybridization (FISH) revealed an area of duplication between p58 and D1S2893, approximately 13 cM in size. We compare our patient's clinical findings with the clinical phenotype found in patients with the corresponding deletion of 1p36.3 and discuss the role of gene dosage in other deletion/duplication syndromes.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
2/4. Juberg-Hayward syndrome: report of a new patient with severe phenotype and novel clinical features.We report a patient with severe mental retardation (MR), microcephaly, Dandy-Walker malformation, bilateral lip/palate clefts, hypertrophied sublingual frenulum, lobular tongue, absent thumbs, and other skeletal abnormalities, including Y-shaped metacarpals and urogenital abnormalities. High-resolution karyotype and subtelomeric fluorescence in situ hybridization were normal. We propose that his clinical picture is most consistent with Juberg-Hayward or orocraniodigital syndrome. Several clinical features present in our patient (unilateral distal displacement of elbow position, second-site radioulnar synostosis, bilateral Y-shaped metacarpal, lobular tongue, hypertrophic frenuli, Dandy-Walker malformation) have not previously been reported in this condition, thus expanding the phenotypic spectrum of this rare condition. The presence of these novel findings suggests possible overlap with other syndromes, such as orofaciodigital and Malpuech syndromes.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
3/4. 46,XY/47,XYY/48,XYYY karyotype in a 3-year-old boy ascertained because of radioulnar synostosis.Chromosome analysis was performed on a 3-year-old boy because of bilateral radioulnar synostosis and demonstrated a mosaic karyotype 46,XY/47,XYY/48,XYYY. He had minor facial anomalies and mild intellectual delay. He appears to be the youngest patient reported with this rare chromosome complement. His father, mother, and brother had normal chromosomes. fluorescence in situ hybridization (FISH) was performed on the propositus and his father with the y chromosome heterochromatic probe (pHY3.4) to add to the evaluation of mosaicism.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
4/4. Possible hereditary Y-chromosome instability.A 9 year old boy, born to a phenotypically normal, non-consanguineous couple was referred for clinical examination due to radio-ulnar synostosis. We made cytogenetic analyses to investigate the genotype-phenotype correlation. Chromosomal studies on the boy and his father revealed a very small y chromosome in both cases, probably due to loss of the heterochromatic long arm segment. Repeated cytogenetic analysis of the boy was made, using QFQ, CBG, DA/DAPI and fluorescence in situ hybridization (FISH) methods with DYZ1 and DYZ3 probes. The results showed a likely mosaicism of cell lines with either a small Y or a normal Y found in the boy. The small Y appeared to be composed of double centromeric regions, without the heterochromatic segment of the long arm of the y chromosome. The father refused re-analysis. These findings indicate an inherent instability of the y chromosome resulting in a familial small Y. The radio-ulnar synostosis may be associated with excessive Y short arms.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |