Chromosomal aberration leading to congenital malformations is an important cause for infant mortality. Forty five infants with congenital malformations affecting various systems were screened by photokaryotyping for evidence of cytogenetic abnormalities after taking thorough family and obstetric history. Among the cases multiple malformations suggestive of Down’s Syndrome was the commonest. The...

background: alpha thalassemia (α-thal) is one of the most common hemoglobinopathies worldwide. the aim of this study was to investigate the spectrum of α-thal mutations among premarital baluch couples in southeastern iran. subjects and methods: we assessed 1215 individuals by multiplex gap polymerase chain reaction (gap-pcr) and amplification refractory mutation system (arms-pcr). results: of t...

OBJECTIVE The objective of this review of genetic counseling (GC) is to describe the current concepts and philosophical and ethical principles accepted by the great majority of countries and recommended by the World Health Organization, the stages of the process, its results and the psychological impact that a genetic disease has on a family. SOURCES The concepts presented are based on an his...

in general, both common illnesses and rare diseases can develop in people and their relatives in families. therefore, taking family history is an effective screening tool to detect such diseases and patients should be aware of its importance in families’ health with updating information in regular visiting. for more information on identifying the genetic pattern of diseases, in this article, we...

the importance of genetic and congenital factors which cause many diseases and disabilities is obvious with a glance at the facts and figures in the world. in iran, like many other middle eastern countries, certain factors exist that worsen the situation such as: 1. high percentage of consanguineous marriages, 2. high incidence and prevalence of hemoglobinopathies (b-thalassemia & g6pd-d), 3. a...

the importance of genetic and congenital factors which causes many diseases and disabilities is obvious with a glance at the facts and figures in the world. in iran, like many other middle eastern countries, certain factors exist that worsen the situation, such as: 1. high percentage of consanguinous marriages, 2. high incidence and prevalence of hemoglobinopathies (ex. b-thalassemia & g6pd-d),...

Consanguineous couples are at increased risk of having a child with a hereditary/congenital disorder. This extra risk is caused by the fact that the child can inherit the same mutated allele from both parents that originates from a common ancestor. First cousin couples are said to have 1.7-2.8% extra risk on top of the background risk that every couple has of having a child with a congenital/he...

introduction: robertsonian translocation is one of the major chromosomal rearrangements with a prevalence rate of 0.1% of the general population and 1% of the infertile population. in this report, we present a nonhomologous robertsonian translocation in a female patient with a history of repeated abortions. case presentation: a couple with the complaint of repeated abortions was admitted in the...

Introduction: APECED (Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy) is an autosomal recessive disease characterized by the association of autoimmune endocrine involvement, mucocutaneous candidiasis and ectodermal tissue involvement. Observation: We report case 2 brothers from a 2nd degree consanguineous marriage with history deaths in siblings for whom diagnosis syndrome was r...