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10.1002/ajmg.1320260427.abs Homocystinuria commonly affects the central nervous system (CNS), primarily as mental retardation, seizures, and stroke. Case reports have long suggested a predisposition to schizophrenia, but no careful study of predisposition to psychiatric illness has been...
10.1002/ajmg.1320260413.abs We are reporting on 7 families with both unilateral and bilateral renal agenesis (or severe dysplasia). This condition, termed hereditary renal adysplasia (HRA) (Buchta et al, 1973), is an autosomal dominant trait with incomplete penetrance and variable expression....
10.1002/ajmg.1320260412.abs In carrier detection studies, females‐at‐risk are usually tested several times if the results are ambiguous, whereas subjects in the control and obligate carrier refer‐ence groups may not be tested as often. The question is how to incorporate the multiple...
10.1002/ajmg.1320260418.abs Two brothers with severe CNS abnormalities, cleft lip/palate, polydactyly, and lung hypoplasia are reported as examples of the hydrolethalus syndrome, an autosomal recessive disorder. Death from cardiopulmonary arrest occurred in patient 1 at age 4 months and in...
10.1002/ajmg.1320260411.abs Congenital heart defects (CHD) represent a heterogeneous group of disorders caused by chromosome abnormalities, mendelian disorders, teratogenic expo‐sures, and unknown etiologic mechanisms. A large group of various isolated defects is presumably multifactorial in...
10.1002/ajmg.1320260407.abs Genetic counselling is recommended for parents of children with neural tube defects (NTDs) to inform them of the recurrence risks and the option of prenatal diagnosis. British Columbia provides an excellent site to examine the use by parents of genetic counselling...
10.1002/ajmg.1320260422.abs Johnson et al (1983) reported on a large family with alopecia‐anosmia‐deafness‐hypogonadism syndrome. We report the detailed findings of an unrelated, affected individual and emphasize the presence of hypohidrosis in our case. Our case indicates that this...
10.1002/ajmg.1320260419.abs Sister chromatid exchange (SCE) was evaluated in peripheral blood lymphocytes cultured from normal subjects, fragile X carrier females, and fragile X affected males and in general did not differ among all subjects whether cells were grown in thymidine‐deficient or...
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