A study of the dermatoglyphs in the de Lange syndrome.
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Five unrelated patients with a supernumerary chromosome derivative of chromosome 15 are described. The clinical findings in the present series of cases show a gross concordance with the data previously reported in subjects with similar aberrations and allow the delineation of a distinct syndrome. Although undetermined variation in the structure of these extra chromosomes may contribute significantly to phenotypic heterogeneity, the patients display a rather common constellation of findings, which include: absence of major malformations, mental and developmental retardation, seizures, hypotonia, behavioural disturbances, and reduced total ridge count on fingertips. Patients with partial trisomy 15q- resulting from dicentric chromosomes bear little resemblance to patients carrying 15q- chromosomes arising de novo or due to unbalanced translocations.
Frequencies of loop patterns on the proximal sole have been estimated in the sample of 21 trisomic subjects and compared with those previously obtained in a sample of normal individuals. Results indicate that, in Down's syndrome, a lowered pattern intensity, characteristic of the distal sole does not occur on the proximal sole. Studies of patterns on the proximal portion of the sole should be pursued using larger samples of 21 trisomics, providing that care is taken to obtain the best quality footprints; the main limitation in such studies is in the common occurrence of ridge dissociation. In addition, some previous estimates of the frequency of zygodactylous triradii on the distal sole have been reconsidered on the basis of the results obtained in the present sample of footprints with complete recording of areas under the toes.
In a preliminary study fingerprint patterns of Down's syndrome children were examined to determine correlations with congenital heart defects (CHD). The results demonstrate that the left hand digit ridge count minus the right hand digit ridge count, and number of ridges on the fifth digit of the left hand separate patients with CHD from those without heart defects (W/OHD). The method correctly classified 92% of the CHD group and 73% of the W/OHD group.
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