A patient with ascending aortic dilatation, similar to phenotypes of connective tissue disorders.

We report on the clinical and molecular findings of a patient who presented alopecia, epicanthus, micrognathia, retrognathia, high arched palate, hypertelorism, Chiari type I malformation, mixed-type hearing loss but with normal heartbeat Q-T interval, malformed earlobes, down-slanted palpebral fissures, downturned corners of the mouth, syndactyly, atopic eczema, and seizures. The patient was a male adult, 23 years old, with short stature (153 cm) and low weight (50.5 kg), due to severe aortic insufficiency and dilatation of the ascending aorta. Conventional cytogenetic screening did not show any chromosomal gains or losses. Molecular genetic screening was conducted for gene mutations involved in various syndromes; the mutations found included [beta-fibrinogen -455 G>A wt/wt (wt/mut), PAI-1 4G/5G (4G/4G), HPA1 a/b (a/a), MTHFR C677T wt/wt (wt/mut), ACE I/D (I/I), and Apo E E3/E4]. Many clinical and molecular genetics findings overlapped with other conditions associated with arterial tortuosity and arterial aneurysms, including the Marfan, Ehler-Danlos, Shprintzen-Goldberg, and Loeys-Dietz syndromes. Although a diagnosis of Shprintzen-Goldberg syndrome was based on clinical findings and radiographic findings indicate other syndromes, aortic root dilatation seems to be a new symptom, similar to phenotypes of connective tissue disorders. The unique grouping of clinical manifestations in this patient and the molecular genetics findings lead us to suggest that this case could be an example of a previously unrecognized syndrome.

Incidence of neural tube defects in Afyonkarahisar, Western Turkey.

The incidence of neural tube defects is higher in Turkey compared to that of developed countries. To prevent congenital malformations, understanding of the current status is necessary, which should be followed by public-based activities. We examined the incidence rate of neural tube defects (NTDs) in Afyonkarahisar. According to the records of the Department of Pediatrics, Zubeyde Hanim Hospital for Children's and Women's Health in Afyonkarahisar, the total number of births was 8631 during 2003 and 2004. Sixty-three babies with anomalies were identified in the early postnatal period. The incidence of neural tube defect based on records of hospitals in the city center was calculated as 3.58/1000, among which 9 (1.04%) of the malformed babies had spina bifida, 2 (0.23%) had encephalocele, 12 (1.39%) had anencephaly, and 8 (0.92%) had meningocele/meningomyelocele. In 32 of the 63 cases, there were also other malformations (cleft lip or clubfoot, hydrocephalus, foot abnormalities, etc.). We calculated the total incidence of NTDs, including live births, stillbirths and therapeutic abortions. Stillbirths referred to all fetal deaths after 24 weeks or longer gestation. In each case, the type of anomaly was determined. Thirty-one babies with an NTD were recorded among 8631 gestations (all live births, stillbirths and therapeutic abortions). The incidence of NTDs was found to be 35.9 per 10,000 live births in Afyonkarahisar. The incidence of spina bifida/anencephaly was 0.748 per 1000 newborns. Maternal illiteracy, maternal advanced age and residence in northern or eastern regions of Turkey were found to be risk factors for having a baby with an NTD. The incidence of NTDs is higher than in other European countries.

Fluorescence in situ hybridization analysis with subtelomere specific probes (12pter-15qter) showed no differences in deletion patterns between normotensive and essential hypertension.

Telomere biology is intimately linked to the genetic/environmental etiology of cardiovascular and metabolic diseases and telomere shortening is emerging as an important biomarker disease. The relationship between subtelomeric deletions and genetic hypertension was examined. Fluorescence in situ hybridization was used to directly assess whether there is a loss or gain of subtelomere copy number. Five subjects with essential hypertension and five normotensive controls were recruited from the outpatient population of the Cardiology Department of the Afyon Kocatepe University Medical School. Fluorescence in situ hybridization was performed using 12p(Tel12) and 15q(Tel15) Cytocell subtelomeric probes on metaphase slides prepared from peripheral blood samples. No differences in subtelomeric region signals between the hypertensive and normotensive groups were found.

A cytogenetics study of Hydrodroma despiciens (Müller, 1776) (Acari: Hydrachnellae: Hydrodromidae)

The karyotypes of water mites (Acari: Hydrachnellae: Hydrodromidae) are largely unknown. The present investigation is the first report of a study designed to characterize the chromosomes of water mites. The study was carried out with specimens of Hydrodroma despiciens collected from Eber Lake in Afyon, Turkey. Several different methods were tried to obtain chromosomes of this species. However, somatic cell culture proved to be the most effective for the preparation of chromosomes. In the present study, we determined the diploid chromosome number of Hydrodroma despiciens to be 2n = 16. However, a large metacentric chromosome was found in each metaphase, which we believed to be the X chromosome. We could not determine the sex chromosomes of this species. This study is the first approach to the cytogenetic characterization of this water mite group. Furthermore, these cytogenetic data will contribute to the understanding of the phylogenetic relationship among water mites. To our knowledge, this is the first report on the cytogenetics of water mites.