Inheritance of non-syndromal genetic deafness

This study was carried out on 35 patients with undifferentiated genetic hearing loss attending the Human Genetics Clinic, Medical Research Institute, Alexandria University. Their ages ranged from three months to 25.5 years. Females were commonly affected than males. The high parental consanguinity [75%] with high inbreeding coefficient [0.04] declared the role played by consanguinity, which is an important risk factor, in the occurrence of the abnormality. The type of hearing loss in all patients is sensorineural. The diagnosis of deaf patients was done by means of pedigree analysis and audiometric criteria. They were classified according to their diagnosis into four cases with dominant inheritance, 21 cases having congenital deafness showed recessive inheritance with a recurrence risk of 0.277 +/- [1.96] [0.10], one case with childhood deafness also showed recessive inheritance and one case with X-linked inheritance. Six cases were isolated cases, their mode of inheritance was indefinite except one case which may have suggested dominant inheritance. Two cases of ototoxicity in childhood also suggesting genetic causes were included genetic counseling was offered to the deaf parents to help the family to accept and adjust to the birth of a deaf child. The nature of the condition, prognosis and recurrence risk were explained to the parents

Newborn screening for certain treatment inborn errors of metabolism in Alexandria

The study was conducted on two groups of newborn infants: Group A; a random sample of 3000 infants attending different Health offices in Alexandria for BCG vaccination. Their ages ranged from 5-120 days with a mean age of 39.9 days. Group" B; included all the infants born to high risk families attending the clinic of Human Genetics Department, Medical Research Institute [9 infants; 7 with family history of PKU and 2 with family history of congenital hypothyroidism]. Their ages ranged from 7 to 60 days with a mean age of 18 days. The newborn infants of the two groups were screened for three treatable inborn errors of metabolism, phenylketonuria "PKU", galactosemia and congenital hypothyroidism with the aim of early detection and therapy to prevent mental retardation. In group A; one baby with transient hyperphenylalaninemia [HPA] [0.33%] and one presumptive case of galactosemia [0.33%] were found. Initial positive results were found in eleven infants they had high levels of thyroid stimulating hormone [TSR]. On reevaluation of nine infants of them they were all euthyroids. In Group B, four infants were detected among the infants of PKU families. After confirmation of these results breast feeding was stopped at once and the infants started their dietary management and were kept on it with follow up and periodic evaluation of the adequacy of treatment

Cytogenetic findings in moderate and severe mental handicapped males

The aim of the present study was to estimate the frequency of various chromosomal abnormalities among the mentally handicapped males. A cytogenetic study done for 300 males with mental handicap, attending the Genetic Clinic, Medical Research Institute, Alexandria University, from institutions of the mentally retarded in Alexandria. 71 males [23.7%] has an abnormal karyotypes, 48 [16.0%] had Down syndrome, one [0.3%] had autosomal non-Down syndrome, 7 [2.3%] had structural autosomal aberrations other than Down syndrome [5 unbalanced, 2 balanced], 13 [4.3%] had fragile X-chromosome while, 2 [0.7%] had sex chromosome abnormalities. Chromosomal aberrations are important cause of mental handicap