Evaluation of Microfluidics-FISH method in prenatal diagnosis.

Objectives: Classical cytogenetic analysis remains a gold standard in invasive prenatal diagnosis. Recently, Microfluidics¬-FISH, a novel method based on FISH, has been introduced. This integral approach allows to obtain result for common aneuploidies within the same day from a much smaller sample of the amniotic fluid.

The effects of growth hormone therapy on the somatic development of a group of Polish children with Silver-Russell syndrome.

Objective: Silver-Russell Syndrome is both clinically and genetically a heterogeneous syndrome. Among the most important dysmorphic features of this condition are: a triangular shaped face with a small mandible, a prominent frontal eminence, a thin vermilion border with downward-pointing lip corners, clino- and brachydactyly of the 5th fingers as well as body asymmetry. The most well-known genetic mutations in this syndrome are: the 11p15 epimutation (20-60% patients) and the maternal uniparental chromosome 7 disomy present in 7% to 15% of patients.

A ten-year observation of somatic development of a first group of Polish children with Silver-Russell syndrome.

Objective: Silver-Russell syndrome is heterogeneous both clinically and genetically. The best known genetic aberrations existing in this syndrome are an 11p15 epimutation, present in 20-60% patients, and a maternal uniparental chromosome 7 disomy (7-15%) (upd(7)mat). Children with SRS suffer from physical growth impairments - intrauterine and after birth.

Ophthalmic treatment and vision care of a patient with rare ring chromosome 15: a case report.

The Aim. Ring chromosome 15 is a very rare genetic abnormality with a wide spectrum of clinical findings. Up to date, about 50 cases have been documented, whereas no reports on ophthalmological treatment of such patients have been published.

Prenatal diagnosis of Langer-Giedion Syndrome confirmed by BACs-on-Beads technique.

Langer-Giedion Syndrome (LGS), with characteristic phenotypic features including craniofacial dysmorphic signs, postnatal growth retardation and skeletal abnormalities, mental impairment, urogenital malformations and heart defects, is caused by partial deletions of the long arm of chromosome 8. We present a case of a female fetus with LGS. The diagnosis was molecularly proven with the BACs on Beads method at 32 weeks of gestation.

Deletion of 14.7 Mb 2q32.3q33.3 with a marfanoid phenotype and hypothyroidism.

Interstitial 2q deletions are very rare chromosome abnormalities. The 2q32q33 deletion was proposed as a distinct entity with characteristic phenotype. Most patients have feeding problems, growth restriction, moderate to severe developmental delay, speech delay or lack of speech, high, prominent forehead, thin sparse hair, teeth abnormalities and a high or cleft palate.

Congenital optic disc cyst concomitant with persistent hyaloid artery--a case report.

The aim is to present a rare case of solitary malformation in the form of a congenital optic disc cyst concomitant with the persistent hyaloid artery. The intrabulbar congenital cyst of the optic disc partially covering the medial part of the disc was found in a 3-month old infant. B-San ultrasound confirmed the presence of the intrabulbar heterogeneous mass (7.

Oro-palatal dysplasia Bettex-Graf--clinical findings, genetic background, treatment.

Oro-palatal dysplasia Bettex-Graf is an extremely rare syndrome consisting of microstomia, U-shaped cleft palate and micrognathia. Only two affected families have been reported before. We present the clinical findings, treatment and 13 year follow-up in a patient with this rare syndrome.

[Will the new molecular karyotyping BACs-on-Beads technique replace the traditional cytogenetic prenatal diagnostics? Preliminary reports].

Recently several attempts have been made to introduce molecular karyotyping techniques into prenatal diagnosis. These methods can be used not only for the diagnosis of classical aneuploidies, but first of all they should be employed in the diagnostics of microaberrations, which are not revealed by low resolution methods of classical cytogenetics. The new method BACs-on-Beads is designed for quick detection of broad panel of aneuploidies and microdeletions, by the specified detection of deletions and duplications in the examined fetal DNA acquired from amniocytes.

Familial distal monosomy 3p26.3-pter with trisomy 4q32.2-qter, presenting with progressive ataxia, intellectual disability, and dysmorphic features.

We present a boy diagnosed with partial 3p monosomy and partial 4q trisomy. The patient was 9 years of age with intellectual disability, dysmorphic features, and ataxia. A family history and medical evaluation showed that the father manifested similar facial dysmorphic features, intellectual disability, quadriparesis, and progressive cerebrospinal ataxia.

Prenatal diagnosis of rare fetal anomalies--a case report.

Hereby we present a case of a pregnancy in which careful dysmorphology of the fetus in subsequent sonographic evaluation resulted in detection of a very rare anomaly. It allowed explanation of the fetal phenotype, compared then with that of the newborn and estimation of genetic risk for the next pregnancies in this family.

[The "heart-hand" syndrome in a 8-year-old-boy with short stature].

"Heart-hand" syndrome is a broad category of diseases. The most common form is Holt-Oram syndrome (HOS) that occurs in approximately 1:100 000 live births. It is characterized by upper limb defects (carpal bone defects, triphalangeal thumbs, hypoplasia or absence of the thumb and the radial ray) and cardiac septal defects (atrial septal defects or ventricular septal defects).

Wolf-Hirschhorn syndrome due to pure and translocation forms of monosomy 4p16.1 → pter.

The aim of this study was to obtain a quantitative definition of Wolf-Hirschhorn syndrome (WHS) through systematic phenotypic analyses in a group of six children with 4p15.32 → pter, 4p15.33 → pter, or 4p16.

The results of prenatal screening in the group of 2285 pregnant women from Western Pomeranian Region of Poland diagnosed between 2005-2006.

Unlabelled: In the following paper we have presented the results of non-invasive and invasive prenatal diagnostic tests performed on 2285 pregnant women from the Western-Pomeranian Region between 2005 and 2006.

Material And Methods: Retrospective analysis of screening tests on 2285 pregnant women. Medical history, including age, weight, familial data pedigrees up to third degree relatives, accompanying diseases, gestational complications in the family, type, dosage and period of any drugs intake, was obtained.

Tumors of dysgenetic gonads in Swyer syndrome.

Background/purpose: The female with Swyer syndrome requires close follow-up because of the high risk of neoplastic transformation in the dysgenetic gonads. The aim of this work was to present our experience with tumors in patients with Swyer syndrome.

Methods: We studied 8 females with Swyer syndrome.

Increased rates of chromosome breakage in BRCA1 carriers are normalized by oral selenium supplementation.

Women who are born with constitutional heterozygous mutations of the BRCA1 gene face greatly increased risks of breast and ovarian cancer. The product of the BRCA1 gene is involved in the repair of double-stranded DNA breaks and it is believed that increased susceptibility to DNA breakage contributes to the cancer phenotype. It is hoped therefore that preventive strategies designed to reduce chromosome damage will also reduce the rate of cancer in these women.

Novel mutations in epithelial sodium channel (ENaC) subunit genes and phenotypic expression of multisystem pseudohypoaldosteronism.

Objectives: Multisystem pseudohypoaldosteronism (PHA) is a rare autosomal recessive aldosterone unresponsiveness syndrome that results from mutations in the genes encoding epithelial sodium channel (ENaC) subunits alpha, beta and gamma. In this study we examined three PHA patients to identify mutations responsible for PHA with different clinical presentations.

Patients: All three patients presented uniformly with symptoms of severe salt-loss during the first week of life and were hospitalized for up to a year.

[Localization and clinical characteristics of the ocular metastases of solid extraocular tumours].

Localization and clinical characteristics of the ocular metastases of solid tumours are presented. Choroid is the most common localization site of these metastases, however they may involve each ocular structure. In the most cases they are diagnosed in patients with earlier recognized cancer, but in 12-40% of the patients ocular metastasis is a first sign of the neoplasm.

[Ocular metastases of solid extraocular tumors. Frequency of ocular metastases and localization of the primary tumors].

The aim of this paper is, to characterize ocular metastases of solid extraocular tumors and analyze the frequency and localization of their primary sites, according to literature data of 1967-2002 years. The most common source of this metastases are breast, lung and prostate cancers in adults and neuroblastoma in children. Practically used diagnostic ways of ocular metastases in many cases omit histopathology investigation and for this reason in some cases, particularly with coexistence of hereditary cancer predisposition, second primary tumors may be misdiagnosed, as the distant--time ocular metastases.

A high proportion of founder BRCA1 mutations in Polish breast cancer families.

Three mutations in BRCA1 (5382insC, C61G and 4153delA) are common in Poland and account for the majority of mutations identified to date in Polish breast and breast-ovarian cancer families. It is not known, however, to what extent these 3 founder mutations account for all of the BRCA mutations distributed throughout the country. This question has important implications for health policy and the design of epidemiologic studies.

Supernormal electro-oculograms in patients with neurofibromatosis type 1.

Purpose: To asses the retinal pigment epithelium (RPE) function measured by EOG testing in patients with neurofibromatosis type 1 (NF-1). Our preliminary EOG results suggested dysfunction of the RPE in individuals with NF-1. In order to confirm our initial results we performed EOG examination on a larger group of NF-1 patients.