A Journey with LGMD: From Protein Abnormalities to Patient Impact.

The limb-girdle muscular dystrophies (LGMD) are a collection of genetic diseases united in their phenotypical expression of pelvic and shoulder area weakness and wasting. More than 30 subtypes have been identified, five dominant and 26 recessive. The increase in the characterization of new genotypes in the family of LGMDs further adds to the heterogeneity of the disease.

Miller-Dieker syndrome with microdeletion of chromosome 17p13.3: report of one case.

Miller-Dieker syndrome (MDS) consists of lissencephaly, characteristic craniofacial appearance and sometimes other birth defects. Since 1983, it has been shown that most cases of MDS are caused by deletion of chromosome 17p13.3.

Frequency and distribution of chromosomal integration sites of the Epstein-Barr virus genome.

Human lymphocytes can be transformed in vitro by integration of the Epstein-Barr virus (EBV) into the host genome. To study whether integration sites are stable or changeable in the course of long-term cultivation, three EBV-transformed lymphoblastoid cell lines, along with positive control (Namalwa cell line) and negative control (noninfected lymphocytes) cells were studied. A biotinylated Bam H1WEBV-DNA fragment was used as the probe for fluorescence in situ hybridization to count the numbers and to localize the sites of integrated EBV-DNA.

A human hepatocellular carcinoma cell line with multiple copies of structurally normal chromosomes.

At Veterans General Hospital (VGH), a cell line, HA59T(HA59T/VGH), was established from a primary hepatocellular carcinoma of a 52-year-old Chinese male patient. G-banded metaphases were analyzed at passages 12 and 62. Of the 200 cells counted, 68% had 100-110 chromosomes/cell at passage 12, and 74% had 90-100 chromosomes/cell at passage 62.

A cytogenetic survey of mentally retarded children in Taiwan: final report on the incidence of chromosome abnormalities.

A cytogenetic survey of 470 mentally retarded children from three different sources is reported. Thirty-eight patients (8.08%) were found to have recognizable chromosome abnormalities, including 4 cases of sex chromosomes and 34 cases of autosomes.