A Paternal "Balanced" Chromosome 2 and 4 Translocation with Chromosome 21q Insertion Leading to Duplication of 2q22.1q24.1 in Two Siblings.

Complex chromosomal rearrangements (CCRs) have been described as alterations between two or more chromosomes with at least 3 breakpoints. CCRs can cause copy number variations (CNVs) resulting in developmental disorders, multiple congenital anomalies, and recurrent miscarriages. Developmental disorders are an important health problem affecting 1-3% of children.

The association between telomere length and ischemic stroke risk and phenotype.

The chronological age of a person is a key determinant of etiology and prognosis in the setting of ischemic stroke. Telomere length, an indicator of biological aging, progressively shortens with every cell cycle. Herein, we determined telomere length from peripheral blood leukocytes by Southern blot analyses in a prospective cohort of ischemic stroke patients (n = 163) and equal number of non-stroke controls and evaluated its association with various ischemic stroke features including etiology, severity, and outcome.

Mosaic Small Supernumerary Marker Chromosome Derived from Five Discontinuous Regions of Chromosome 8 in a Patient with Neutropenia and Oral Aphthous Ulcer.

Small supernumerary marker chromosomes (sSMCs) are characterized as additional centric chromosome fragments which are too small to be classified by cytogenetic banding alone and smaller than or equal to the size of chromosome 20 of the same metaphase spread. Here, we report a patient who presented with slight neutropenia and oral aphthous ulcers. A mosaic de novo sSMC, which originated from 5 discontinuous regions of chromosome 8, was detected in the patient.

Importance of patient selection criteria in determining diagnostic copy number variations in patients with multiple congenital anomaly/mental retardation.

Background: Etiology of developmental delay/intellectual disability is very heterogeneous. In recent years, genetic causes have been defined through the use of chromosomal microarray analysis as a first step genetic test.

Results: Samples from 30 patients with multiple congenital anomaly and/or mental retardation were analyzed with array comparative genomic hybridization in the context of this study.

Association Between N363S and BclI Polymorphisms of the Glucocorticoid Receptor Gene (NR3C1) and Glucocorticoid Side Effects During Childhood Acute Lymphoblastic Leukemia Treatment.

Objective: Glucocorticoids (GCs) are the key drugs for the treatment of pediatric acute lymphoblastic leukemia (ALL). Herein, investigation of the relationship between the N363S and BclI polymorphisms of the GC receptor gene (NR3C1) and the side effects of GCs during pediatric ALL therapy was aimed.

Materials And Methods: N363S and BclI polymorphisms were analyzed in 49 patients with ALL treated between 2000 and 2012.

Pure partial trisomy 4q syndrome in a child with der(9)ins(9;4)(q34.3;q26q35.2)mat.

Pure partial trisomy 4q syndrome in a child with der(9)ins(9;4)(q34.3;q26q35.2)mat: Partial trisomy 4q is a rare chromosomal abnormality and mostly results from unbalanced inheritance of balanced parental chromosomal translocations.

Characteristics and prevalence of non-classical congenital adrenal hyperplasia with a V2811 mutation in patients with premature pubarche.

We aimed to determine the prevalence and clinical characteristics of non-classical congenital adrenal hyperplasia (NCCAH) with V281L mutation in patients with premature pubarche. An adrenocorticotrophic hormone (ACTH) stimulation test was performed in 14 of the 159 patients with premature pubarche (PP). Patients whose stimulated 17alpha-hydroxyprogesterone (17-OHP) level on the ACTH test was > or =10 ng/mL underwent a mutational analysis of the CYP21 gene.

A child with myelodysplastic syndrome with hypocellular fibrosis.

A 9-year-old girl with intractable anemia, rare mucocutaneous bleeding, and pallor was presented. Hemoglobin was 49 g/L; reticulocyte 0.79%, mean corpuscular volume 81 fL, platelet 37×10⁹/L; white blood cell count 3.

Congenital bilateral parotid gland agenesis in Klinefelter syndrome.

Bilateral parotid gland agenesis is a rare clinical entity and it's an etiopathogenesis remains obscure. The literature contains no reports of the co-existence of bilateral parotid gland agenesis and Klinefelter syndrome. The condition is usually asymptomatic and causes asymmetry in the head and neck areas.

Identification of frequency and distribution of the nine most frequent mutations among patients with 21-hydroxylase deficiency in Turkey.

Unlabelled: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders mainly due to defects in the steroid 21-hydroxylase (CYP21A2) gene.

Methods: To determine the mutational spectrum in the Turkish population, the CYP21A2 active gene was analyzed in 100 unrelated patients with the classical form of 21-hydroxylase deficiency using PCR and RFLP.

Results: Mutations were detected in 78 patients: 64 patients were homozygous for one mutation, seven patients were compound heterozygous with different mutations on each chromosome, two patients were homozygous for two different mutations, five patients were heterozygous, and 22 patients harbored none of the tested mutations.

Translocation (13;17)(q14;q25) as a novel chromosomal abnormality in acute myeloid leukemia-M4.

We report a case of AML-M4 in which G-band karyotyping revealed a previously unreported t(13;17)(q14;q25) in metaphase preparations. The breakpoints at 13q14 and 17q25 are associated with poor prognosis. The MSF and FKHR genes are located on 17q25 and 13q14, respectively.

The role of genetic counseling on decisions of pregnant women aged 35 years or over regarding amniocentesis in Turkey.

We investigated the effects of genetic counseling given before amniocentesis that is given based on maternal serum screening (using the cut-off value of 1/250) and genetic sonogram results (+/- abnormal ultrasound marker) on pregnant women who are 35 years and older age. Their attitudes towards amniocentesis after genetic counseling were evaluated. Among 340 women, 223 (65.

[Health policy of Refik Saydam and its reflections to the public health center: Hifzissihha Merkezi].

Doctor Refik Saydam is an unforgettable name by virtue of his work in the field of health services, especially regarding those he performed in the early years of the Turkish Republic. In this paper, a brief overview of his life story is followed by a presentation of his activities and enterprises, particularly those related to health policies and health services. To emphasize the importance of his contributions and to show the course taken during his time, his performance is explained with respect to the conditions of his period.