Oro-dental abnormalities in patients with mental retardation

The present study included 132 cases with mental subnormality. The aim of the present work was to investigate the prevalence of the oral and dental abnormalities in patients with mental retardation and to delineate the most common patterns of presentation associated with oro-dental abnormalities. All patients were subjected to full history taking, thorough oro-dental examination and IQ assessment. Chromosomal studies and metabolic screening were done when needed. It was concluded that oro-dental abnormalities are more frequent in patients with severe or profound mental retardation. The oral region abnormalities represent a major problem in the oral health of patients with mental retardation. Medical dental services and care were recommended for the affected cases, since there is no national oral disease prevalence data for patients with mental retardation and developmental disability

Structural abnormalities of the Y chromosome: Genotype-phenotype correlation

The aim of this study was to correlate the structural abnormalities of the Y chromosome to its presenting clinical features to evaluate the phenotype-genotype correlation. The study was performed on 30 patients who had structural Y chromosome abnormalities. The cytogenetic methods included conventional G-banding, diamidino-2-phenylindole [DAPI] and fluorescent in situ hybridization [FISH] techniques. The structural abnormalities of the Y chromosome were a deletion of the long arm [Yq-] in 13 cases, a partial deletion of the short arm [Yp-] in 6 cases, large heterochromatin of Y [Yq+] in 6 cases, pericentric inversion in 4 cases and one case with ring Y. Their phenotypic presentations varied from complete normal male, ambiguous genitalia to complete female phenotype. The clinical presentations and cause of referral of the patients were variable including male infertility and azoospermia, primary amenorrhea, mental retardation, multiple congenital anomalies and/or dysmorphism, short stature, ambiguous genitalia, routine premarital counseling and repeated abortions