Increased interaction between heat shock protein 27 and mitogen-activated protein kinase (p38 and extracellular signal-regulated kinase) in pre-eclamptic placentas.

Aims: Heat shock protein 27 (Hsp27) is a well-known stress response protein that is characterized by its phosphorylative capacity. Hsp27 becomes phosphorylated in response to various stimuli through interaction with several different kinases. The purpose of this study was to evaluate the interaction between Hsp27 and mitogen-activated protein kinase (MAPK) (p38, extracellular signal-regulated kinase [ERK], and c-Jun N-terminal kinase) in the human placenta derived from patients with pre-eclampsia.

Endometrial carcinoma in a patient having 45,X Turner syndrome with gonadal mosaicism.

Only three cases of endometrial carcinoma in women with possibly pure 45,X Turner syndrome without previous unopposed estrogen therapy have been reported. A 46-year-old single nulligravid woman with Turner syndrome phenotype, spontaneous menstruation, and well-differentiated adenocarcinoma of the endometrium was diagnosed as having the 45,X karyotype from peripheral blood, skin, buccal cells, and endometrium, which was confirmed using fluorescence in situ hybridization (FISH). Analysis of the ovarian tissue using FISH confirmed 45,X/46,XX mosaicism.

Efficacy of array comparative genomic hybridization in a fetus with an inherited apparently balanced translocation: A case report.

When one parent is discovered to have the same apparently balanced genetic rearrangement as that identified at prenatal diagnosis, many couples are advised to seek a more precise prenatal diagnosis for reassurance. A 25-year-old translocation carrier, who carried a fetus with partial trisomy 3q and partial monosomy 9p with omphalocele in a previous pregnancy, showed the same apparently balanced translocation at chorionic villus sampling. A truly balanced translocation without cryptic imbalances for the fetus was detected using array comparative genomic hybridization.

Molecular cytogenetic investigation of a balanced complex chromosomal rearrangement carrier ascertained through a neonate with partial trisomies of 13 and 22.

Complex chromosomal rearrangement (CCR) is a structural abnormality of chromosomes that rarely appears in individuals with normal phenotypes. A CCR involving chromosomes 9, 13, and 22 was ascertained in a phenotypically normal woman through a neonate with multiple congenital malformations and partial trisomies of 13 and 22. We diagnosed the CCR using high-resolution chromosome analysis and three-color fluorescence in situ hybridization (three-color FISH) analysis, and ascertained a balanced CCR without cryptic imbalances using array comparative genomic hybridization (array CGH) and FISH.