Chromosomal abnormalities and autism

Background: Autism is a neurodevelopmental disorder characterized by clinical, etiologic and genetic heterogeneity. Many surveys revealed cytogenetically visible chromosomal abnormalities in 7.4% of autistic patients documented as well as several submicroscopic variants. This study had been conducted to identify some aspects that might be involved in the pathogenesis of autism which is necessary for offering proper genetic counseling to families of autistic patients and their role in the prenatal diagnosis of autism

Methods: This cross sectional study was conducted at the Child Psychiatry Clinic, Pediatric Hospital, Ain Shams University on 30 autistic patients who were subjected to the following tools: Confirmation of diagnosis using DSM-IV-TR criteria, IQ assessment using Stanford-Binet intelligence scale and assessment of severity of autistic symptoms using childhood autism rating scale [CARS]. Full clinical examination, neurological examination, EEG, audiological assessment were also done. High resolution karyotyping was done for detection of numerical or structural chromosomal abnormalities as deletion, duplication, translocation of chromosomes

Results: All the results of cytogenetic analysis were normal with no detectable numerical or structural chromosomal abnormalities. Males are affected more than females, only one case had history of drug intake [progestin], two cases had history of anti-D injection and two cases had history of diabetes mellitus during pregnancy. Four cases had history of respiratory distress and seven cases had history of jaundice. Two cases had history of generalized tonic clonic convulsion and four cases had history of EEG abnormalities. Fifteen cases of our autistic patients had mild mental retardation and six cases had moderate mental retardation

Conclusion: Chromosomal abnormalities were not detected in the studied autistic children, and so the relation between the genetics and autism still needs further work up with different study methods and techniques

Progressive osseous heteroplasia [POH]: an Egyptian patient

Progressive osseous heteroplasia is a rare genetic disorder characterized by cutaneous ossification during infancy and progressive ossification of subcutaneous and deep connective tissue including muscle and fascia during childhood. It is at the severe end of a spectrum of Guanine Nucleotide-binding protein, Alpha-Stimulating activity polypeptide [GNAS] associated ossification disorders that include osteoma cutis and Albright hereditary osteodystrophy. Here we describe a five year old boy with progressive ossification of skin and subcutaneous tissue and progressive limitation of movement of all joints. X-rays revealed extensive calcification of cutaneous and subcutaneous tissues involving nearly the whole body. As far as our knowledge, no cases have been reported before in the Middle East. Here we describe the first Egyptian child affected with this disorder

Maternal risk factors in young Egyptian mothers of down syndrome

We investigated the possible maternal risk factors that may increase the incidence of Down syndrome [DS] in young Egyptian mothers [younger than 35 years] especially methylene tetrahydrofolate reductase [MTHFR] enzyme C677T polymorphism. The study included 200 mothers of karyotypically ascertained non-disjunction DS attending Genetics clinic, Children's hospital, Ain Shams University [100 mothers were < 35 years and 100 mothers =/> 35 years]. 50 mothers of none-DS children served as a control group. For all cases, history was taken laying stress on: Parental ages at conception, maternal grandparent's ages at conception of mother, DS birth order, history of oral contraceptive use 6 months before conception, genital infection, vitamin supplementation and smoking or exposure to irradiation. MTHFR C677T mutational analysis was done to twenty DS mothers with ages

Rapid sex determination using PCR technique compared to classic cytogenetics

Fetal sexual differentiation relies on the translation of chromosomal sex established at fertilization into gonadal sex and somatic sex as development proceeds. In cases where chromosomal, gonadal, and somatic sex are incongruent in human infants and children, rapid establishment of the diagnosis and implementation of medical and surgical management is of paramount importance, since the gender identity is so important to the psychological well-being throughout life. This work was done in order to test the value of PCR technique for rapid sex determination compared to classic cytogenetic technique. Subjects included 20, cases including 10 neonates with ambiguous genitalia, 2 adult females with delayed puberty and 8 adult males with infertility, in addition to 20 normal infants of both sexes as a control group. The diagnosis of sex was attempted through examination, cytogenetic study, ultrasonography, gonadal biopsy and hormonal analysis, in addition to PCR amplification for the detection of SRY and ATL1 gene loci on Y and X chromosomes respectively. Four neonates were diagnosed as partial testicular feminization showed both positive bands for the Y and X chromosomes and a karyogram of 46/XY. Three neonates were diagnosed as true hermaphrodites showed positive amplification for both Y and X chromosomes with a mosaic karyogram 46, XX/XY. Three neonates were diagnosed as cases of adrenogenital syndrome showed positive amplification of only the Xchromosome and had a karyogram of 46/XX. One of the two adult females was diagnosed as Turner syndrome showed positive amplification of the X chromosome and a karyogram of 45/XO; the other one was diagnosed as complete testicular feminization had a positive amplification of X and Y chromosomes and a karyogram of 46/XY. The 8 adult males with infertility showed a positive amplification of X and Y chromosome and a karyogram of 47/XXY [Klinefelter syndrome] in 7 cases and 46/XY gonadal dysgenesis in one case. We concluded that PCR as a simple, rapid and reliable technique can complement and also confirm cytogenetic studies in the diagnosis of sex in cases of sex chromosome disorders

Femoral hypoplasia-unusual facies syndrome: femoral facial syndrome [FFS]: a recessive severe skeletal form

The femoral hypoplasia-unusual facies syndrome [FFS] is a very rare association of femoral and facial abnormalities. Maternal diabetes mellitus has been mainly involved as the causal agent. Autosomal dominant inheritance was described in few cases. We report a four-year old male with complete absence of both femora, not associated with other congenital anomalies except bilateral undescended testes

Prenatal onset infantile cortical hyperostosis [caffey disease]: an Egyptian report

Prenatal onset infantile cortical hyperostosis [prenatal form of Caffey disease] is an uncommon disease characterized by polyhydramnios, pulmonary hypoplasia, hepatomegaly, bowed hyperostotic long bones, and a poor prognosis [1]. We report a fetus of 33 weeks of gestation whose clinical and radiological findings are compatible with the severe form of this disease. The occurrence of this form in two siblings provides further evidence for the recessive form of inheritance

Cohen syndrome

We report two new cases of Cohen syndrome from two separate families. They have typical clinical features of non-progressive mental retardation, microcephaly, obesity and characteristic facial features

Molecular cytogntic profiles of hepatitis C infection in patients at Sharkia Governorate, Egypt

In this study, 40 paraffin blocks liver tissues from HCV-PCR positive patients [HBV seronegative] were examined using DNA image cytometry to evaluate its role in diagnosing hepatocellular carcinoma [HCC] associated with hepatitis C virus [HCV] infection. Fluorescent in situ hybridization [FISH] technique using LSIZNF 217 chromosome 20q 13.2 probe was applied. The results showed a high percentage of S- phase fraction in cases of G2S2 and G3S3 with DNA diploidy. Only two cases of G3S3 showed DNA aneuploidy with a severe amplification of chromosome 20q 13.2. Consequently, DNA imaging cytometry is considered a good approach in differentiating dysplasia from well- differentiated HCC on the top of HCV infection. In conclusion, HCV has an acquired role in the development of HCC through the amplification of the aggressive tumor behavior oncogene LSIZNF 217 at chromosome 20q 13.2