abstract hypotonia is a serious neurologic problem in neonatal period. although hypotonia is a nonspecific clinical finding but it is the most common motor disorder in the newborn. the objective of this study was to determine the frequency of neonatal hypotonia then to ascertain of the most common causes methods this cross –sectional prospective study was carried out on the 3281 term infants ho...

context prenatal testing aims to identify fetal chromosomal and genetic disorders prior to delivery. current invasive procedures such as amniocentesis and chorionic villus sampling (cvs) pose a risk to mother and fetus and such diagnostic procedures are available only to high-risk pregnancies, which limits aneuploidy detection rate. the identification of cell-free fetal dna (cffdna) in maternal ...

BACKGROUND Thousands of infants are born each year with chromosomal abnormalities that severely impact physical and mental development. Among common genetic disorders are Down syndrome (trisomy 21) and sex chromosomal disorders. OBJECTIVES Evaluation of guidelines used for prenatal diagnosis of Down syndrome (DS) as well as sex chromosomal disorders including interphase Fluorescent In Situ Hy...

Pectus excavatum (PEx) is the most common congenital anomaly of the chest wall and is seen in association with many chromosomal syndromes and connective tissue disorders. It causes distortion of the physical and electrical orientation of the heart. We present a case with classic ECG changes along with a selected echocardiographic and a CT image.

Panic disorder and phobic anxiety disorders are common disorders that are often chronic and disabling. Genetic epidemiologic studies have documented that these disorders are familial and moderately heritable. Linkage studies have implicated several chromosomal regions that may harbor susceptibility genes; however, candidate gene association studies have not established a role for any specific l...

Copy number variants are small chromosomal deletions and duplications. When they alter the dose of genes critical for normal brain development and adult brain functioning they may cause severe disorders such as autism and schizophrenia. Numerous such loci have recently been identified. They are offering amazing leads for neuropsychiatric research.

about 15% of couples have infertility problems, half of which are related to male factors. cytogenetic and genetic disorders account for about 10% of the male infertility problems. the aim of this study was to determine the frequency and types of both cytogenetic abnormalities and azf microdeletions of y chromosome in idiopathic azoospermic and oligospermic infertile men in west of iran. in thi...

conclusions parents were blood relatives in 33 (33%) of the patient cases, which is a very high rate. therefore, non-random mating is an important issue in developing countries that needs more attention results 100 patients with down syndrome and congenital heart disease were evaluated; 52 were female (52%) and 48 were male (48%). the average birth weight of the subjects was 2745 ± 523 (mean ± ...