Three cases of isolated terminal deletion of chromosome 8p without heart defects presenting with a mild phenotype.

Individuals with isolated terminal deletions of 8p have been well described in the literature, however, molecular characterization, particularly by microarray, of the deletion in most instances is lacking. The phenotype of such individuals falls primarily into two categories: those with cardiac defects, and those without. The architecture of 8p has been demonstrated to contain two inversely oriented segmental duplications at 8p23.

UPD detection using homozygosity profiling with a SNP genotyping microarray.

Single nucleotide polymorphism (SNP) based chromosome microarrays provide both a high-density whole genome analysis of copy number and genotype. In the past 21 months we have analyzed over 13,000 samples primarily referred for developmental delay using the Affymetrix SNP/CN 6.0 version array platform.

Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay.

The proximal long arm of chromosome 15 has segmental duplications located at breakpoints BP1-BP5 that mediate the generation of NAHR-related microdeletions and microduplications. The classical Prader-Willi/Angelman syndrome deletion is flanked by either of the proximal BP1 or BP2 breakpoints and the distal BP3 breakpoint. The larger Type I deletions are flanked by BP1 and BP3 in both Prader-Willi and Angelman syndrome subjects.

Mosaic trisomy 22: a case presentation and literature review of trisomy 22 phenotypes.

In a case of mosaic trisomy 22 the trisomic cells were detected primarily in fibroblasts. Results of initial lymphocyte chromosome analysis were normal. However, mosaicism was suspected because the patient had hypomelanosis of Ito, hemiatrophy, failure to thrive, and mental retardation.

Lens protein phylogeny: immunocrossreactivity of vertebrate lens antigens to anti-shark crystallin antibody.

Antisera prepared against total water-soluble lens proteins of the shark, Scoliodon sorrakowah were reacted with homologous antigen and analysed reaction products by immunoelectrophoresis (IE) and two dimensional crossed antigen-antibody electrophoresis (2D-CE). On IE, shark antigens formed 5 precipitin lines including 1 alpha, 3 beta and 1 gamma crystallins and on 2D-CE 3 alpha, 6 beta and 6 gamma peaks accounting for 8%, 27% and 65% antigen in the respective group were obtained from the total crystallins. Using anti-shark antisera, the immunocrossreactivity of lens proteins from 6 Chondropterygii, 23 teleosts and 16 higher vertebrates was examined by IE.