1/2. Three probands with autistic disorder and isodicentric chromosome 15.We have identified three unrelated probands with autistic disorder (AD) and isodicentric chromosomes that encompass the proximal region of 15q11.2. All three probands met the diagnostic and statistical manual of mental disorders, fourth edition [DSM-IV; American Psychiatric association, 1994], and international classification of diseases ( ICD-10) diagnostic criteria for AD, confirmed with the Autism Diagnostic interview -Revised (ADI-R). Chromosome analysis revealed the following karyotypes: 47,XX, idic(15)(q11.2), 47,XX, idic(15) (q11.2), and 47,XY, idic(15)(q11.2). Haplotype analysis of genotypic maker data in the probands and their parents showed that marker chromosomes in all three instances were of maternal origin. Comparison of the clinical findings of the three AD probands with case reports in the published literature (N = 20) reveals a clustering of physical and developmental features. Specifically, these three probands and the majority of reported probands in the literature exhibited hypotonia (n = 13), seizures (n = 13), and delayed gross motor development (n = 13). In addition, clustering of the following clinical signs was seen with respect to exhibited speech delay (n = 13), lack of social reciprocity (n = 11), and stereotyped behaviors (n = 12). Collectively, these data provide further evidence for the involvement of chromosome 15 in AD as well as present preliminary data suggesting a clustering of clinical features in AD probands with proximal 15q anomalies.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/2. High cognitive functioning and behavioral phenotype in Pallister-Killian syndrome.Pallister-Killian syndrome (PKS) is a rare syndrome of multiple congenital anomalies attributable to the presence of a mosaic supernumerary isochromosome 12p. The syndrome presents with a recognizable pattern of findings including: pigmentary skin changes, characteristic facial features (sparse anterior scalp hair, flattened midface, macrostomia, and coarsening of the facial features), and developmental delay. The developmental phenotype of PKS is quite variable, but most are considered to fall into the profound range of developmental retardation. We report on an individual with classical features of PKS with development significantly better than that reported in the literature. Developmental and behavioral testing in this individual alters the range of developmental expectation in PKS, and highlights the need for consideration of chromosomal analysis in individuals with normal or near-normal intelligence if other physical phenotypic features of PKS are present.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |