ABSTRACT
We report a case of Miller-Dieker syndrome (MDS) owing to an unbalanced rearrangement of a familial pericentric inversion of chromosome 17 (inv(17) (p13.3q25.1)). In addition to lissencephaly and the facial features of MDS, the affected child had other congenital malformations consistent with distal 17q duplication. Initial cytogenetic analysis failed to show any abnormality and fluorescence in situ hybridisation (FISH) studies confirmed the 17p deletion in the proband and identified the chromosome 17 inversion in his mother. FISH studies were performed in other relatives and enabled first trimester prenatal diagnosis by chorionic villus sampling in a subsequent pregnancy of the proband's mother. These findings underline the value of FISH in the investigation of MDS families.
Subject(s)
Abnormalities, Multiple/genetics , Chromosome Inversion , Chromosomes, Human, Pair 17/genetics , Abnormalities, Multiple/physiopathology , Brain/pathology , Child, Preschool , Cytogenetics , Fatal Outcome , Female , Fetal Diseases , Humans , In Situ Hybridization, Fluorescence , Male , Pedigree , Pregnancy , Pregnancy Complications , Tomography Scanners, X-Ray Computed , Ultrasonography, PrenatalABSTRACT
A female infant with peripheral pulmonary artery stenosis, growth retardation, and developmental delay was noticed to have facial features consistent with a diagnosis of Williams syndrome. Chromosome analysis revealed a deletion of the terminal portion of the long arm of chromosome 4 (4q33----qter). This is the seventh reported case of this chromosome disorder. It is possible that this chromosome region is specific for the Williams syndrome phenotype but it is more likely that the syndrome is heterogeneous. Chromosome analysis should be performed in all suspected cases with particular attention to the long arm of chromosome 4.
Subject(s)
Chromosome Deletion , Chromosomes, Human, Pair 4 , Growth Disorders/genetics , Pulmonary Artery/abnormalities , Female , Humans , Infant , Phenotype , SyndromeABSTRACT
Karyotype anomalies were found in 9 of 13 non-Hodgkin lymphomas. The observed non-random involvement of chromosomes was non-specific and was associated with chromosome breakpoints rather than recurrent markers. The recurrent markers which were found were similar to those of previously published studies. An attempt to correlate histological classification and chromosome anomalies in published series indicated that there were limited histological associations, the frequency of abnormalities of chromosomes 14 and 18 showing the largest disparity between disease types. Among the breakpoints and translocations found are those known to be associated with oncogene location, and the possibility is raised of an oncogene on 18.