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10.1002/ajmg.1320020403.abs Eighty normal Caucasians were studied by CBG technique for estimation of size and inversion heteromorphisms of chromosomes 1, 9, and 16. Size heteromorphisms were classified into one of five sizes using 16p as a reference standard: very small, small, intermediate,...
10.1002/ajmg.1320020408.abs Two male and two female sibs with an unusual form of spondyloepiphyseal dysplasia were reported. The main clinical features were low stature, moderate shortness of trunk and neck, abnormal span: height ratio, low‐normal UBS: LBS ratio, and peripheral corneal punctate...
10.1002/ajmg.1320020404.abs Recurrence risks for primary congenital heart lesions are well defined. An infant with hypoplastic left heart syndrome is observed to have a short neck with a full skin fold on the right side, unilateral single palmar crease, and whorls on all ten fingers. She was...
10.1002/ajmg.1320020410.abs We report six males with the syndrome of macroorchidism and mental retardation. The trait is inherited as though X‐linked, or possibly autosomal dominant male‐limited. We also found no evidence of gonadal dysfunction. Associated abnormalities were abnormal EEG...
10.1002/ajmg.1320020402.abs The main radiologic findings from four unrelated cases and two sibs with acheiropodia are presented and discussed. On the basis of such analysis, a clinical and radiologic description of the anomaly is given. The presence of one or more fingers and of a small bone...
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