Trisomy 9 syndrome in a neonate with unusual features

Aim of the Work: To report a newborn infant with multiple congenital anomalies and apparent complete trisomy 9 in the blood. Review will be included.Methods: Clinical examination, TORCH screening, echocardiography, skeletal survey, ultrasound head and abdomen were done. In addition chromosomal analysis of a peripheral blood sample using GTG, CBG banding and FISH techniques were employed.Results: Multiple congenital anomalies including craniofacial features, centralnervous, cardiovascular, skeletal, gastric and urogenital systems becauseof chromosomal abnormality which indicated: 47, XY, inv (9) (p12;q13) + inv(9) (p12;q13) mat. Conclusion: Our case could be a new case of apparently complete trisomy 9syndrome with unusual findings.Key Words: Trisomy 9, congenital anomalies, karyotype, FIS

Consanguinity and reproductive health among Arabs

Consanguineous marriages have been practiced since the early existence of modern humans. Until now consanguinity is widely practiced in several global communities with variable rates depending on religion, culture, and geography. Arab populations have a long tradition of consanguinity due to socio-cultural factors. Many Arab countries display some of the highest rates of consanguineous marriages in the world, and specifically first cousin marriages which may reach 25-30% of all marriages. In some countries like Qatar, Yemen, and UAE, consanguinity rates are increasing in the current generation. Research among Arabs and worldwide has indicated that consanguinity could have an effect on some reproductive health parameters such as postnatal mortality and rates of congenital malformations. The association of consanguinity with other reproductive health parameters, such as fertility and fetal wastage, is controversial. The main impact of consanguinity, however, is an increase in the rate of homozygotes for autosomal recessive genetic disorders. Worldwide, known dominant disorders are more numerous than known recessive disorders. However, data on genetic disorders in Arab populations as extracted from the Catalogue of Transmission Genetics in Arabs (CTGA) database indicate a relative abundance of recessive disorders in the region that is clearly associated with the practice of consanguinity

Small Deletions of SATB2 Cause Some of the Clinical Features of the 2q33.1 Microdeletion Syndrome

Recurrent deletions of 2q32q33 have recently been reported as a new microdeletion syndrome. Clinical features of this syndrome include severe mental retardation, growth retardation, dysmorphic features, thin and sparse hair, feeding difficulties and cleft or high palate. The commonly deleted region contains at least seven genes. Haploinsufficiency of one of these genes, SATB2, a DNA-binding protein that regulates gene expression, has been implicated as causative in the cleft or high palate of individuals with 2q32q33 microdeletion syndrome. In this study we describe three individuals with smaller microdeletions of this region, within 2q33.1. The deletions ranged in size from 173.1 kb to 185.2 kb and spanned part of SATB2. Review of clinical records showed similar clinical features among these individuals, including severe developmental delay and tooth abnormalities. Two of the individuals had behavioral problems. Only one of the subjects presented here had a cleft palate, suggesting reduced penetrance for this feature. Our results suggest that deletion of SATB2 is responsible for several of the clinical features associated with 2q32q33 microdeletion syndrome

Identification of novel schizophrenia loci by homozygosity mapping using DNA microarray analysis.

The recent development of high-resolution DNA microarrays, in which hundreds of thousands of single nucleotide polymorphisms (SNPs) are genotyped, enables the rapid identification of susceptibility genes for complex diseases. Clusters of these SNPs may show runs of homozygosity (ROHs) that can be analyzed for association with disease. An analysis of patients whose parents were first cousins enables the search for autozygous segments in their offspring. Here, using the Affymetrix® Genome-Wide Human SNP Array 5.0 to determine ROHs, we genotyped 9 individuals with schizophrenia (SCZ) whose parents were first cousins. We identified overlapping ROHs on chromosomes 1, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 16, 17, 19, 20, and 21 in at least 3 individuals. Only the locus on chromosome 5 has been reported previously. The ROHs on chromosome 5q23.3-q31.1 include the candidate genes histidine triad nucleotide binding protein 1 (HINT1) and acyl-CoA synthetase long-chain family member 6 (ACSL6). Other overlapping ROHs may contain novel rare recessive variants that affect SCZ specifically in our samples, given the highly heterozygous nature of SCZ. Analysis of patients whose parents are first cousins may provide new insights for the genetic analysis of psychiatric diseases

Consanguineous unions and child health in the State of Qatar

The aim of the study was to estimate the prevalence and sociodemographic predictors of consanguineous unions in the State of Qatar and to assess the association between consanguinity, fertility and child health. A representative sample of 1800 Qatari women aged >= 15 years was approached for the study. Of these, 1515 (84.2%) women agreed to participate. The consanguineous marriage rate was 54.0% with estimated population confidence limits of 52.3-55.7%. First cousin unions were the most common form of cousin marriage. The level of parental consanguinity (both in the respondent's parents and her parents-in-law) was quite high. In a multivariable analysis, both education of the respondent and her husband as well as parental consanguinity were found to be strong predictors of consanguineous unions in the index generation. Although fertility was high in both groups, the mean number of pregnancies was somewhat higher in respondents with first cousin unions. Concomitantly they also had a slighter higher rate of livebirths than women in non-consanguineous unions. The occurrence of asthma, mental retardation, epilepsy and diabetes was significantly more common in offspring of all consanguineous than non-consanguineous couples