An anthropometric survey of 41 variables (weight, height, 10 linear, 4 breadth, 22 craniofacial, 2 skinfold, and testicular volume), including multivariate discriminant analysis, was undertaken on 110 mentally retarded males (39 with and 71 without the fra(X) syndrome). The mean Z scores of the fra(X) syndrome males fell between −2.00 and 8.38 for bizygomatic diameter and testicular volume, respectively, and the range of the mean Z scores of the non-fra(X) males was from −2.64 to 2.26 for hand breadth and testicular volume, respectively. There was a statistically significant difference (P < .05) between fra(X) and non-fra(X) males for 18 measurements (weight, height, 7 linear, 2 breadth, 5 craniofacial, 1 skinfold, and testicular volume), with the greater measurements (excluding bizygomatic diameter) found in fra(X) males. Sitting height, knee-buttock length, middle finger length, and hand length were negatively correlated (P < .05) with age, whereas bizygomatic diameter, ear length, and ear width were positively correlated (P < .05) with age and head circumference, head length, and outer canthal distance were positively correlated (P < .05) with fra(X) chromosome expression in the fra(X) males. Triceps and subscapular skinfold thicknesses were negatively correlated (P < .05) with age, whereas ankle breadth, ear length, ear width, and nose length were positively correlated (P < .05) in the non-fra(X) males. Discriminant analysis of 34 fra(X) and 71 non-fra(X) males resulted in a discriminant function based on 6 of 17 anthropometric variables and age. In the discriminant analysis, patients with the fra(X) syndrome were distinguished from mentally retarded males without the fra(X) syndrome at an overall correct classification rate of 97.1% in our sample. The 6 anthropometric variables in the discriminant function were the Z scores representing testicular volume, ear width, head breadth, bizygomatic diameter, hand breadth, and hand length. Additional research is needed to test the usefulness of these variables in screening mentally retarded males for the fra(X) syndrome.
Of 1,036 children with newly diagnosed non-T, non-B acute lymphoblastic leukemia (ALL) and a demonstrated cytogenetic abnormality treated on the frontline Pediatric Oncology Group (POG) therapeutic trial 8602, there were 33 patients with trisomy 21 as the sole abnormality. Of these 33, 14 had Down syndrome (DS). Although the non-DS (NDS) trisomy 21 cases tended to be older than the DS cases, there were no other significant differences in clinicobiologic features nor in treatment outcomes between the DS and NDS groups, nor between the entire trisomy 21 group and the other chromosome abnormality group. Among NDS patients with +21 and one additional abnormality, +X, +16, -20, and structural abnormalities involving 6q or 12p were common findings. Kaplan-Meier event-free survival (EFS) curves showed a 4-year EFS of 80% (SE, 12%) in NDS trisomy 21 cases, 71% (SE, 22%) in DS cases with trisomy 21 as the sole abnormality, and 69% (SE, 2%) in cases with other chromosome abnormalities. Trisomy 21 as a sole acquired abnormality in NDS patients suggests a good prognosis.
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