Report of a new case with pentasomy X and novel clinical findings.

Pentasomy X is an extremely rare sex chromosome abnormality, a condition that only affects females, in which three more X chromosomes are added to the normally present two chromosomes in females. We investigated the novel clinical findings in a 1-year-old female baby with pentasomy X, and determined the parental origins of the X chromosomes. Our case had thenar atrophy, postnatal growth deficiency, developmental delay, mongoloid slant, microcephaly, ear anomalies, micrognathia and congenital heart disease. A conventional cytogenetic technique was applied for the diagnosis of the polysomy X, and quantitative fluorescent polymerase chain reaction (QF-PCR) using 11 inherited short tandem repeat (STR) alleles specific to the chromosome X for the determination of parental origin of X chromosomes. A cytogenetic evaluation revealed that the karyotype of the infant was 49,XXXXX. Comparison of the infant's features with previously reported cases indicated a clinically recognizable specific pattern of malformations referred to as the pentasomy X syndrome. However, to the best of our know-ledge, this is the first report of thenar atrophy in a patient with 49,XXXXX. The molecular analysis suggested that four X chromosomes of the infant originated from the mother as a result of the non disjunction events in meiosis I and meiosis II. We here state that the clinical manifestations seen in our case were consistent with those described previously in patients with pentasomy X. The degree of early hypotonia constitutes an important early prognostic feature in this syndrome. The pathogenesis of pentasomy X is not clear at present, but it is thought to be caused by successive maternal non disjunctions.

Inheritance of a Chromosome 3 and 21 Translocation in the Fetuses, with One also Having Trisomy 21, in Three Pregnancies in One Family.

The majority of chromosome rearrangements are balanced reciprocal and Robertsonian translocations. It is now known that such abnormalities cause no phenotypic effect on the carrier but lead to increased risk of producing unbalanced gametes. Here, we report the inheritance of a translocation between chromosomes 3 and 21 in a family with one of two fetuses with Down Syndrome carrying the same translocation and the other also carrying the same translocation without the additional chromosome 21. Chromosomal analysis from fetal amniotic fluid and peripheral blood lymphocytes from the family were performed at the Çukurova University Hospital at Adana, Turkey. We assessed a family in which the translocation between chromosomes 3 and 21 segregates: one of the three progenies carried the 47,XX,+21,t(3;21)(q21;q22) karyotype and presented with Down Syndrome; another of the three progenies carried the 46,XX,t(3;21) (q21;q22) karyotype and the third had the 46,XY karyotype. Their mother is phenotypically normal. Apparently this rearrangement occurred due to an unbalanced chromosome segregation of the mother [t(3;21)(q21;q22)mat]. This family will enable us to explain the behavior of segregation patterns and the mechanism for each type of translocation from carrier to carrier and their effects on reproduction and numerical aberrations. These findings can be used in clinical genetics and may be used as an effective tool for reproductive guidance and genetic counseling.

Insecticide resistance in Anopheles sacharovi Favre in southern Turkey.

We report the resistance to 12 insecticides of specimens of Anopheles sacharovi, both in laboratory cultures and those collected in the malarious areas of Adana, Adiyaman, Antalya, Aydin, and Mugla in southern Turkey. Mortality was higher 24 h after exposure than immediately after exposure but was unaffected by temperature (24 degrees C or 29 degrees C) or the position of the test kit (horizontal or vertical). In Adana, Adiyaman and Antalya, A. sacharovi was susceptible only to malathion and pirimiphos-methyl. In Aydin it was susceptible to both these insecticides as well as to dieldrin, lambda-cyhalothrin, and etofenprox; and in Mugla it was susceptible to dieldrin, fenitrothion, lambda-cyhalothrin, cyfluthrin and etofenprox, as well as to malathion and pirimiphos-methyl.

Sandflies (Diptera: Psychodidae) associated with epidemic cutaneous leishmaniasis in Sanliurfa, Turkey.

As part of a project to study the possible impact of environmental change on health in southeastern Turkey, we evaluated sandfly species diversity, abundance, and habitat associations in an urban area where cutaneous leishmaniasis was undergoing epidemic re-emergence. Houses and caves in and around the city of Sanliurfa, Turkey, were sampled using mechanical aspirators, sticky papers, and CDC light traps. Of 1,649 sandflies captured, including 6 Phlebotomus and 1 Sergentomyia species, nearly all were P. papatasi (Scopoli) (967) or P. sergenti Parrot (674). Sandflies were active during June-September (hot dry season), but not during January (cool rainy season). Resting phlebotomines were abundant inside houses. Houses sampled in 3 neighborhoods with a high cutaneous leishmaniasis incidence (9-65 cases per 1,000 population) had > 10 times more flies than at a comparison site where few cases (0.2 per 1,000) have been reported. Results indicated that P. sergenti or P. papatasi were the probable vectors of cutaneous leishmaniasis during this outbreak and that control of these sandflies may eliminate transmission.

Residual efficacy of pirimiphos methyl (Actellic) on Anopheles sacharovi in Cukurova, Turkey.

Village-scale trials of 50% emulsifiable concentrate (EC) and 40% wettable powder (WP) formulations of pirimiphos methyl (Actellic) were carried out against Anopheles sacharovi in Cukurova, Turkey. Susceptibility tests with wild caught, gonoactive and composite aged An. sacharovi over a range of chemical concentrations resulted in 100% mortality after exposure for 60 min to a 0.5% active ingredient concentration. Surface treatments of Actellic 50% EC at 0.9 g/m2 caused a significant decrease in parous rate and a 96.9% reduction in resting density. Persistence on concrete, wood, zinc and plywood was still high at the time of the second spray round, more than 7 wk postspray and ranged from 73% (zinc) to 98% (plywood). More than 50% mortality was still recorded 8 wk postspray using 1.6 g/m2 WP on wood, plywood, zinc and thatch substrates.