Dermatoglyphics in mosaic Down's syndrome. 1976

J H Priest, and P V Tishler, and B Rosner

To determine whether quanitative dermal indices are useful in ascertaining the liability for or severity of mosaic Down's syndrome (DS), dermatoglyphics of 107 subjects with proven 46/47,+21 DS were scored by four quantitative dermal indices. The distribution of mosaics by weighted mean percentage of +21 cells ranged from 1 to 95 and was bimodal. Mean maternal age at birth of mosaics (32.9 +/- 7.5 years) was elevated when compared with control maternal ages in the literature. The distribution of quantitative dermal indices for the total mosaic population fell roughly midway between those in the literature for normal and full DS individuals: 73% of mosaics were classified as definitively DS, 21% were in the intermediate range, and 6% were normal. For mosaics who were minimally affected, 24% were DS, 53% intermediate, and 23% normal. One can conclude: (1) For any suspect mosaic, a dermal score in the DS range is highly suggestive of karyotypic pathology. (2) The high prevalence of intermediate scores in normal subjects severely restricts their diagnostic value in screening for mosaics in the general population. For a selected population, such as parents of +21 children, the screening value of quantitative dermal indices remains an open question. Weighted regression analyses demonstrate a highly significant correlation (P less than 0.001) of dermal index score with the weighted mean proportion of +21 cells transformed to the logit scale. One may exploit this correlation to predict the ratio of +21/normal cells in infants, in whom early karyotype evolution can preclude an estimate of the ultimate syndrome based on initial degree of mosaicism. Furthermore, this correlation provides additional indirect evidence that dermal microsymptoms in DS are a reflection of the presence of +21 cells.

UI MeSH Term Description Entries
D009030 Mosaicism The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote.
D003878 Dermatoglyphics The study of the patterns of ridges of the skin of the fingers, palms, toes, and soles. Fingerprints,Plantar Prints,Fingerprint,Plantar Print,Print, Plantar,Prints, Plantar
D004314 Down Syndrome A chromosome disorder associated either with an extra CHROMOSOME 21 or an effective TRISOMY for chromosome 21. Clinical manifestations include HYPOTONIA, short stature, BRACHYCEPHALY, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, single transverse palmar crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213) Mongolism,Trisomy 21,47,XX,+21,47,XY,+21,Down Syndrome, Partial Trisomy 21,Down's Syndrome,Partial Trisomy 21 Down Syndrome,Trisomy 21, Meiotic Nondisjunction,Trisomy 21, Mitotic Nondisjunction,Trisomy G,Downs Syndrome,Syndrome, Down,Syndrome, Down's
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

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