Clinical and cytogenetic study of a non mosaic 46, X, isodicentric Yq in an Egyptian patient with Turner syndrome.

UNLABELLED: We report on a female with Turner syndrome phenotype and an isodicentric Y chromosome 46, X, idicYq a combination which has to the best of our knowledge not been reported before. OBJECTIVE: To delineate the phenotypic spectrum (clinical and gonadal features) for a female patient with 46, X, + marker karyotype. PATIENTS AND METHODS: The study included a female patient referred to the Clinical Genetics Department, National Research Centre, Egypt. Our patient was subjected to clinical examination and chromosome analysis by GTG banding techniques. Fluorescence in situ hybridization (FISH) was done to identify the marker chromosomes detected by conventional methods. RESULTS: The patient presented with bilateral lymphedema of upper and lower limbs since birth. Craniofacial anomalies (epicanthal folds, broad nasal bridge, long philtrum, protruded tongue, low set ears, short neck), genital ambiguity, with variable Turner stigmata and normal height were detected. Chromosome analysis revealed non mosaic 46, X, + marker. FISH showed 46, X, isodicentric Yq, SRY was negative and deletion ofYp subtelomere. CONCLUSION: To our knowledge, such an association has not been previously described. Further elucidation to pinpoint the level of the defect of major Y genes is of great clinical significance for better phenotype/karyotype correlations.

Ring chromosome 15: expanding the phenotype.

Ring chromosome 15 is a rare disorder, with less than 50 cases reported in the literature to date. We report the clinical and cytogenetic evaluation of a patient with ring chromosome 15. Diagnostic tests including echocardiography, abdominal ultrasound, brain computerized tomography (CT), magnetic resonance imaging (MRI) and electroencephalogram (EEG) were done. Clinical examination of the patient revealed the characteristic features of ring chromosome 15, such as growth retardation, hypertelorism, frontal bossing, a highly arched palate, small hands and feet and café-au-lait spots. In addition, the patient presented with a mild intellectual disability, a congenital atrial septal heart defect, and abnormal EEG records. We also report 2 novel findings, which to our knowledge; have not been reported before in ring chromosome 15 patients: large areas of hyperpigmentation on the front of both legs and feet and hypogenesis of the corpus callosum. Cytogenetic studies using both conventional G-banding and fluorescence in situ hybridization (FISH) with a Sub Tel 15q probe confirmed the diagnosis of ring chromosome 15.

Cytogenomic characterization of 1q43q44 deletion associated with 4q32.1q35.2 duplication and phenotype correlation.

BACKGROUND: Microdeletion of 1q43q44 causes a syndrome characterized by intellectual disability (ID), speech delay, seizures, microcephaly (MIC), corpus callosum abnormalities (CCA) and characteristic facial features. Duplication of 4q is presented with minor to severe ID, MIC and facial dysmorphism. We aimed to verify the correlation between genotype/phenotype in a patient with 1q43q44 deletion associated with 4q32.1q35.2 duplication. CASE PRESENTATION: We report on a 3 year-old female patient with delayed motor and mental milestones, MIC and facial dysmorphism. She is a child of non-consanguineous parents and no similarly affected family members. CT brain showed abnormal gyral patterns, hypogenesis of corpus callosum and bilateral deep Sylvian fissure. Electroencephalogram showed frontotemporal epileptogenic focus. Her karyotype was revealed as 46,XX,add(1)(q44). Fluorescence in situ hybridization (FISH) using whole chromosome paint (WCP1) and subtelomere 1q revealed that the add segment was not derived from chromosome 1 and there was the deletion of subtelomere 1q. Multiple ligation probe amplification (MLPA) subtelomere kit revealed the deletion of 1q and duplication of 4q. Array CGH demonstrated the 6.5 Mb deletion of 1q and 31 Mb duplication of chromosome 4q. CONCLUSION: The phenotype of our patient mainly reflects the effects of haploinsufficiency of AKT3, HNRNPU, ZBTB18 genes associated with duplication of GLRA3, GMP6A, HAND2 genes. Patients presented with ID, seizures, MIC together with CCA are candidates for prediction of 1q43q44 microdeletion and cytogenomic analysis.

Factors influencing development of caries teeth.

A cross sectional study was conducted on the children of 146 randomly selected urban families of Abha, Saudi Arabia, to find out the common factors associated with caries teeth. The factors considered for association were per capita monthly income, sources of drinking water, consumption of soft drinks, daily brushing of teeth, daily consumption of candy, and the education levels of mothers. All children up to 12 years of age were examined by visiting their families. The results showed that the per capita monthly income, sources of drinking water and habit of drinking soft drinks had no significant relation with the prevalence rates of caries teeth in children. But the habit of nonbrushing of teeth daily, daily consumption of candies, and low or no education of mothers had significant association with the presence of caries teeth. Adequate health education of children about the ill effects of these practices and raising the educational levels of mothers and prospective mothers may contribute towards achieving dental health by the year 2000 as targetted by the World Health Organization.

Detection of cytogenetics abnormalities in chronic lymphocytic leukemia using FISH technique and their prognostic impact.

INTRODUCTION: Chronic lymphocytic leukemia (CLL) is a clonal lymphoproliferative disorder characterized by progressive accumulation of morphologically and immunophenotypically mature lymphocytes. Characterization of genomic aberrations may help to understand the pathogenesis of CLL and may give prognostic information independent from conventional clinical markers for a risk-adapted management of CLL patients. AIM: The aim of the present study is to determine the most common cytogenetics abnormalities between patients with CLL and its prognostic impact. PATIENTS AND METHODS: The present study was carried out on 20 adult patients presented with chronic lymphocytic leukemia. The patients were diagnosed on the basis of standard clinical (lymph node involvement and/or hepatosplenomegaly), hematological and immunophenotypic criteria for diagnosis of B-CLL. All cases were studied at the time of their diagnosis. FISH technique was successfully performed on PB samples using CLL LSI probes for ATM (11q22) / GLI (12q13) and 13q14/ p53 (17p13). RESULTS: For comparative statistical studies, the patients were divided into group I (patients with favorable outcome) and group II (patients with unfavorable outcome). All patients showed one or more cytogenetic abnormality with the prevalence of p53 in 16 patients out of 20 that perfectly correlated with the poor outcome of the patients. This is followed by deletion in the 13q14 and to a lesser extent deletion in ATM gene, but no one has exhibited amplification in the 12q13 locus. CONCLUSION: p53 deletion as a sole abnormality has a higher prognostic power than other cytogenetics abnormalities. The cytogenetics study using FISH panel for CLL patients in a complementary fashion to the other clinical and laboratory findings may overcome the pitfalls in the diagnosis and may also assess the assignment of therapeutic protocols for CLL patients according to the results of their cytogenetic analysis at the time of diagnosis. KEYWORDS: FISH, chronic lymphocytic leukemia, CLL, p53, cytogenetics, Egypt.

Post-partum dilated cardiomyopathy in anti-phospholipid positive woman.

Recurrent fetal loss and pregnancy complications, especially severe early-onset preeclampsia, are frequently associated with anti-phospholipid antibodies. We report a case of post-partum cardiac involvement leading to dilated cardiomyopathy in a woman with a persistent positivity for anti-cardiolipin and anti-nuclear antibodies. Her clinical and obstetric record reported two previous fetal losses but no other signs characteristic of the anti-phospholipid syndrome or diagnostic for a systemic lupus erythematosus. Post-partum cardiomyopathy might be another cardiac presentation of the anti-phospholipid syndrome, in addition to the well known valvular involvement. In patients with persistent positivities for anti-phospholipid antibodies, a prompt identification of such a complication in the post-partum period should be taken into account by physicians. Adequate cardiologic treatment associated with antiaggregant and steroid therapy might be useful to prevent further complications in these patients.