one of the major causes of spontaneous abortion before the fourth month of pregnancy is chromosomal abnormalities. we report an unusual case of a familial balanced chromosomal translocation in a consanguineous couple who experienced 4 spontaneous abortions. chromosomal studies were performed on the basis of g-banding technique at high resolution and revealed 46, xx, t (16 6) (p12 q26) and 46, x...

BACKGROUND Many chromosomal abnormalities are associated with Central Nervous System (CNS) malformations and other neurological alterations, among which seizures and epilepsy. Some of these show a peculiar epileptic and EEG pattern. We describe some epileptic syndromes frequently reported in chromosomal disorders. METHODS Detailed clinical assessment, electrophysiological studies, survey of t...

Chromosomal karyotype is important to determine whether a newborn has genetic disorder. There are two main categories of chromosomal abnormalities, structural abnormalities in which the chromosome structure altered, and number abnormalities. Manual karyotyping complex takes lot time because it requires high degree domain expertise. Based on this investigation proposes new method defect detectio...

background: fetal nasal bone assessment is a non-invasive procedure that helps provide even greater assurance to patients undergoing their first trimester risk assessment for aneuploidies. absence or presence of this factor is different in some races. objective: the study was aimed to evaluate nasal bone in the first trimester of pregnancy in the indigenous population of khuzestan province, and...

background: considering that establishment of reference value of nuchal translucency (nt)-related to the crown rump length (crl) during the first trimester will be helpful for determining an appropriate cutoff level for  screening of increased nt thickness-related abnormalities, we determined the nt thickness and investigated its relation with diff erent chromosomal and nonchromosomal abnormali...

BACKGROUND The prevalence of chromosomal abnormalities is assumed to be higher in infertile men and inversely correlated with sperm concentration. Although guidelines advise karyotyping infertile men, karyotyping is costly, therefore it would be of benefit to identify men with the highest risk of chromosomal abnormalities, possibly by using parameters other than sperm concentration. The aim of ...

Objective: Approximately 15-20% of clinically recognizable pregnancies end in spontaneous abortion. The incidence of chromosomal abnormalities in those abortions is as high as 50%.A modest but clinically important proportion of spontaneous abortions is caused by a balanced chromosomal aberration in one o...

chromosomal abnormalities are major causes of infertility, miscarriage and birth of handicapped progeny. in human live births, the prevalence of a chromosome aberration is ?0.5% and, of these, 0.1–0.3% correspond to structural chromosome rearrangements such as translocations, inversions, insertions and deletions .our proband is an infant who had died 4 hours after birth due to a variety of abno...