Negotiating Closed Doors and Constraining Deadlines: The Potential of Visual Ethnography to Effectually Explore Private and Public Spaces of Motherhood and Parenting.

Pregnancy and motherhood are increasingly subjected to surveillance by medical professionals, the media, and the general public, and discourses of ideal parenting are propagated alongside an admonishment of the perceived "failing" maternal subject. However, despite this scrutiny, the mundane activities of parenting are often impervious to ethnographic forms of inquiry. Challenges for ethnographic researchers include the restrictions of becoming immersed in the private space of the home where parenting occurs and an institutional structure that discourages exploratory and long-term fieldwork.

Disruption of the IQSEC2 transcript in a female with X;autosome translocation t(X;20)(p11.2;q11.2) and a phenotype resembling X-linked infantile spasms (ISSX) syndrome.

We report on a female patient with severe infantile spasms, profound global developmental arrest, hypsarrhythmia and severe mental retardation, associated with a de novo apparently balanced X;autosome translocation. Her neurological phenotype resembles that of X-linked infantile spasms (ISSX). Molecular study showed that the translocation disrupts a transcript involved in GTPases signalling, IQSEC2, mapped to the Xp11.

Ultrastructural studies of spermatozoa from infertile males with Robertsonian translocations and 18, X, Y aneuploidies.

Background: In order to clarify the relationship between chromosomal rearrangements, sperm morphology and interchromosomal effects (ICE), we studied the spermatogenetic defects in seven infertile Robertsonian translocation carriers.

Methods: Lymphocyte karyotypes were evaluated using Giemsa-Trypsin-Giemsa banding and fluorescence in-situ hybridization (FISH). Semen analysis was performed by light and transmission electron microscopy.

Panels of somatic cell hybrids specific for chimpanzee, gorilla, orangutan, and baboon.

The generation of panels of somatic cell hybrids specific for chimpanzee, gorilla, orangutan, and olive baboon is reported. The chromosome content of each hybrid clone was characterized using reverse painting on human normal metaphases and by the use of appropriate sequence tag sites (STSs), one for each chromosome arm. These resources can be advantageously exploited in the characterization of chromosome architecture of different primate species, with special reference to the discrimination of inter- and intra-chromosomal arrangement of segmental duplications.

10, 15 reciprocal translocation in an infertile man: ultrastructural and fluorescence in-situ hybridization sperm study: case report.

Background: Peculiar sperm defects are described in a sterile man heterozygous for a balanced translocation t(10;15) (q26;q12). As this structural reorganization was absent in the parents, the translocation must have appeared de novo in the present patient.

Methods: Spermatozoa were analysed under light and transmission electron microscopy (TEM).