Sex chromosome aneuploidy was assessed in spermatozoa from a 47,XXY male and a 46,XY/47,XXY male using three colour fluorescence in-situ hybridization (FISH) and compared with two control groups. The first group included subjects of proven fertility and the second infertile males with normal constitutional karyotype. The frequencies of XX and YY disomic, XY hyperhaploid and diploid spermatozoa ...

Gerard Conway, a colleague at the adult DSD clinic at UCLH, recently said: “If the phenotype doesn’t make sense, think of SF-1.” This may not always be true, but steroidogenic factor-1 (SF-1/NR5A1)-related phenotypes have expanded greatly in recent years, and the report of Swartz et al. [1] in this issue of Hormone Research in Paediatrics adds to the emerging picture. SF-1 (officially known as ...

A balanced translocation t(Y;16)(q11.21;q24) is described in a male with severe oligoasthenoteratozoospermia (OAT). Before having a chromosome investigation, the patient and his partner had undergone intracytoplasmic sperm injection (ICSI) treatment resulting in the birth of a healthy 46,XX child. After detection of the t(Y;16) translocation, the couple opted for further ICSI treatment, althoug...

In Drosophila, the enhancer-trap line mgm1 is already specifically expressed in male germ cells. Staining is first detected in 10-hour-old embryos and it is found in later stem cells. This line, which reveals the earliest sex-specific gene expression in the germline known so far, is a useful molecular marker to assess the sexual pathway that germ cells have entered before any overt sexual dimor...

The taxonomic position of Hetrodes pupus (Tettigoniidae, Hetrodinae) was clarified by a cytogenetic study of mitotic and meiotic chromosomes, including the localization of heterochromatin by C-banding. The karyotype of this species consists of 26 acrocentric autosomes and an acrocentric X chromosome, the largest element of the karyotype (2n male=27, FN=27; sex determination system is X0 male/XX...

The present article is an overview of some mathematical results, which provide elements of rigorous basis for some multiscale computations in materials science. The emphasis is laid upon atomistic to continuum limits for crystalline materials. Various mathematical approaches are addressed. The setting is stationary. The relation to existing techniques used in the engineering literature is inves...

Cytogenetics Additional anomalies First described in a 4-year-old girl with AML M5a with 47,XX,der(7)t(7;10)(p13;p11),+8,der(10)t(7;10)(p13;p 11)t(10;16)(q22;p13),der(16)t(10;16)(q22;p13)/46,XX. Later it was also described in an 84-year-old male without erythrophagocytosis and with this sole cytogenetic aberration. In addition, a variant breakpoint was described in a 52-year-old japanese woman ...

Current paradigms may substantially underestimate the complexity of reptilian sex determination. In previous work, we have shown that the sex of a hatchling lizard (Bassiana duperreyi, Scincidae) does not depend entirely on its genes (XX versus XY sex chromosomes); instead, low nest temperatures can override genotype to produce XX as well as XY males. Our experimental studies now add a third me...

Reproduction is directly connected to the suite of developmental and physiological mechanisms that enable it, but how it occurs also has consequences for the genetics, ecology and longer term evolutionary potential of a lineage. In the nematode Caenorhabditis elegans, anatomically female XX worms can self-fertilize their eggs. This ability evolved recently and in multiple Caenorhabditis lineage...