Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.

Cat Eye Syndrome (CES) is a rare genetic disease caused by the presence of a small supernumerary marker chromosome derived from chromosome 22, which results in a partial tetrasomy of 22p-22q11.21. CES is classically defined by association of iris coloboma, anal atresia, and preauricular tags or pits, with high clinical and genetic heterogeneity. We conducted an international retrospective study of patients carrying genomic gain in the 22q11.21 chromosomal region upstream from LCR22-A identified using FISH, MLPA, and/or array-CGH. We report a cohort of 43 CES cases. We highlight that the clinical triad represents no more than 50% of cases. However, only 16% of CES patients presented with the three signs of the triad and 9% not present any of these three signs. We also highlight the importance of other impairments: cardiac anomalies are one of the major signs of CES (51% of cases), and high frequency of intellectual disability (47%). Ocular motility defects (45%), abdominal malformations (44%), ophthalmologic malformations (35%), and genitourinary tract defects (32%) are other frequent clinical features. We observed that sSMC is the most frequent chromosomal anomaly (91%) and we highlight the high prevalence of mosaic cases (40%) and the unexpectedly high prevalence of parental transmission of sSMC (23%). Most often, the transmitting parent has mild or absent features and carries the mosaic marker at a very low rate (<10%). These data allow us to better delineate the clinical phenotype associated with CES, which must be taken into account in the cytogenetic testing for this syndrome. These findings draw attention to the need for genetic counseling and the risk of recurrence.

Trends in prenatal diagnosis of non-specific multiple malformations disorders with reference to the own experience and research study on Smith-Lemli-Opitz syndrome.

AIM OF THE STUDY: Biochemical diagnosis of fetuses with multiple malformations--an attempt to determine the frequency of prenatal Smith-Lemli-Opitz syndrome. Discussion on trends in prenatal diagnosis of non-specific multiple malformations disorders. MATERIAL AND METHODS: A total of 117 fetal samples were obtained. They were analyzed with gas chromatography/mass spectrometry (GC/MS) method to assess the concentration of 7-dehydrocholesterol (7DHC) and 8-dehydrocholesterol (8DHC) in amniotic fluid samples and (or) to establish 7-dehydroestriol/estriol and 8-dehydropregnanetriol/pregnanetrio ratios in maternal urine. RESULTS: In 4 cases Smith-Lemll-Opitz syndrome was confirmed. CONCLUSIONS: Biochemical GC/MS sterol analyses of amniotic fluid or maternal urinary metabolites toward Smith- Lemli-Opitz syndrome, as cheap tests, should be performed in all pregnancies with suggestive ultrasound features (holoprosencephaly and(or) atrioventricular canal and(or) genital anomalies), especially when nuchal translucency is increased >3 mm, and after exclusion of chromosomal aberration in routine karyotyping or even arrayCGH.

[Transabdominal chorionic villus sampling (CVS) for prenatal diagnosis of chromosomal disorders--own experiences]. / Przezbrzuszna biopsja kosmówki w prenatalnej diagnostyce zaburzen chromosomowych--doswiadczenia wlasne.

OBJECTIVE: To present the authors' own experiences on transabdominal Chorionic Villus Sampling (CVS) for prenatal diagnosis of genetic disorders. DESIGN: Descriptive study PATIENS AND METHODS: A total of 290 couples with request for prenatal diagnosis of various genetic disorders were studied. The most common indications were: fetal abnormalities suspected in an ultrasound scan and biochemistry positive family history on genetic disorders, maternal age. Transabdominal CVS was done under local anesthesia and ultrasound guidance. The genetic analysis was possible in 264 cases (241 with abnormal ultrasound scan and/or biochemistry 11 with positive family history 12 with maternal age). Results were recorded and analyzed for descriptive statistics. RESULT: A total of 290 CVSs were done in the outdoor Most procedures (76%) were done between 12 and 14 weeks (range 11-16 weeks). All placental positions including both anterior and posterior were approachable through the trans-abdominal route. The overall success rate was 100%. Abnormal fetal karyotype was diagnosed in 39% of cases. In 12.9% of cases inconclusive results were observed (due to placental mosaicism or maternal cells contamination). More aneuploidies were observed in group with abnormal first trimester screening (us scan and/or biochemistry) compared to any other indications. CONCLUSION: Transabdominal CVS is a useful outdoor procedure for prenatal diagnosis. However indications for the procedure should be carefully considered since some risk of inconclusive results occurred.

[Chorionic Villus Sampling in cytogenetic analysis--disadvantages and advantages]. / Analiza cytogenetyczna biopsji kosmówki--wady i zalety.

Chorionic villus sampling is used in prenatal diagnosis, enabling to detect fetal genetic abnormalities. Its advantages include the possibility of performing the procedure during the first trimester of pregnancy relatively fast result, risk of miscarriage comparable to that in case of amniocentesis. The disadvantages of this method are: difficult cytogenetic analysis, the possibility of contamination with maternal cells and the risk of mosaicism. There should always be a valid indication to perform the CVS procedure.

[Soil contamination with Toxocara spp. eggs in the Katowice area and its environs]. / Zanieczyszczenie gleby jajami Toxocara spp. na terenie miasta Katowice.

Toxocara spp. is a nematode which causes "larvae migrans visceralis" syndrome in human, especially in children. Cats and dogs are the source of infective eggs of this parasite in human environment. The eggs appear in a soil of urban and rural areas in large number. We have investigated samples of a soil from the recreation areas in Katowice city and its suburbs. The goal of this study was to determine the degree of soil contamination with eggs of Toxocara spp. Of 157 samples examined 79 (50%) contained the eggs. The highest number of eggs has been found in samples collected from landscapes, particulary from the lawn and playgrounds.