Introduction: A retrospective study of 109 children with anorectal malformations (ARMs) was performed to find the incidence of associated congenital anomalies. Material and methods: 109 consecutive children with ARMs were treated between 1992 and 2008. Analysis included sex, duration of pregnancy, body weight at birth and APGAR score, type of ARM and any associated anomalies. Anorectal malforma...

STUDY QUESTION Is there any effect of maternal age on chromosomal anomaly rate and spectrum in recurrent miscarriage? SUMMARY ANSWER There was no significant difference in the chromosome abnormality rate between sporadic and recurrent miscarriage but the chromosome abnormality rate increased significantly with maternal age. WHAT IS KNOWN ALREADY About 50-70% of non-recurrent miscarriages oc...

Clinical geneticist tries to identify the etiology, mode of inheritance and the risk that a similar disorder may occur in the affected childs’ siblings. Five different categories are required for classification of the patients' disorder. Single gene mutations account for 6% of the children with congenital anomalies, chromosomal disorders 7.5%, multifactorial inheritance 20%, and disorders with ...

BACKGROUND Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by congenital aplasia of the uterus and the upper part of the vagina in women showing normal development of secondary sexual characteristics and a normal 46, XX karyotype. The uterovaginal aplasia is either isolated (type I) or more frequently associated with other malformations (type II or Müllerian Renal Cervico-thorac...

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...

A majority of subjects with mental retardation and congenital anomalies cannot be classified under any known malformation syndromes. Major problems in understanding the mechanisms involved in the production of this abnormal phenotype and consequently in providing accurate and informed genetic counseling are therefore challenging. The application of recently developed chromosome banding techniqu...

BACKGROUND Persistent left superior vena cava (PLSVC) is a variant of systemic venous return which is observed in 0.3% of autopsies in the general population and in 4-8% of patients with congenital heart disease. AIMS To evaluate associated cardiac, extracardiac and chromosomal anomalies in prenatally diagnosed cases of PLSVC and to review their outcome. STUDY DESIGN Retrospective comparati...

PURPOSE To describe a Jewish family of Libyan ancestry in which autosomal dominant congenital cataract segregates with an apparently balanced reciprocal chromosomal translocation. METHODS Detailed family history and clinical data were recorded. Cytogenetic studies were performed on 13 family members. RESULTS Embryonal cataracts cosegregated through three generations with a balanced chromoso...

At a Tertiary Genetic Centre, children with mental retardation (MR) (also referred as intellectual disability) and associated developmental disabilities were investigated for genetic diagnosis which is important in prevention and genetic counseling while offering the risk of recurrence to the family. A prospective and retrospective cytogenetic study was conducted on 1760 MR cases for chromosoma...

OBJECTIVE To report the full cohort of identifiable anomalies, regardless of known clinical significance, in a large-scale cohort of postmiscarriage products-of-conception samples analyzed using a high-resolution single-nucleotide polymorphism (SNP)-based microarray platform. High-resolution chromosomal microarray analysis allows for the identification of visible and submicroscopic cytogenomic ...