Dermatoglyphics
Mostrando 13-19 de 19 artigos, teses e dissertações.
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13. Deletion of the short arm of chromosome No. 10.
A newborn male infant, whose karyotype was 46,XY,del(10)(p13) is presented. The clinical features included cleft lip and palate, preauricular pits, low set malpositioned auricles, antimongoloid slant of the eyes, microcephaly, micrognathia, congenital heart disease, hypertrophic pyloric stenosis, cryptorchidism, and abnormal dermatoglyphics. The child died a
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14. Xerodermic idiocy in identical twins
Identical twin girls with the xerodermic idiocy syndrome (xeroderma pigmentosum, neurological complications, and mental retardation) are described. Monozygosity was established by clinical features, blood types, and dermatoglyphics. Biochemical studies were normal but an electroencephalogram showed diffuse disturbance of cerebral function in both twins. Thei
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15. A syndrome of hypotonia, psychomotor retardation, seizures, delayed and dysharmonic skeletal maturation, and congenital fibre type disproportion.
Three unrelated Puerto Rican boys, ranging in age from 3 to 4 years, had marked, central, non-progressive hypotonia, chronic constipation, severe psychomotor retardation, seizures or abnormal electroencephalograph or both, abnormal dermatoglyphics, delayed bone age, dysharmonic skeletal maturation, and preponderance and larger size of type 2 muscle fibres. A
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16. The Alström syndrome: ophthalmic histopathology and retinal ultrastructure.
A case of pigmentary retinal degeneration causing blindness in early childhood, progressive neurosensory hearing loss, diabetes mellitus, acanthosis nigricans, hypogonadism with normal secondary sex characteristics, and kyphoscoliosis without polydactyly and with no mental retardation is reported. The results of endocrinological studies, karyotype analysis,
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17. Parental Dermatoglyphics in Down's Syndrome. A Ten-year Study
Fathers and mothers of Down's syndrome cases show dermal microsymptoms when a large series of parents are compared to the general population. A Walker dermal index score in the overlap range (-2·99 to +3·00) is more likely to occur in fathers of age-dependent Down's syndrome cases (mean paternal age 40, range 25 to 54 years) and in Down's syndrome mothers
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18. Dermatoglyphic patterns in dementia of the Alzheimer type: a case-control study.
STUDY OBJECTIVE--The aim was to compare digital and palmar dermatoglyphics in subjects with dementia of Alzheimer type and in mentally healthy elderly controls. DESIGN--This design was a case-control study. SETTING--The study was carried out in geriatric units and retirement communities in the Paris area. PARTICIPANTS--Cases were women with clinically diagno
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19. Down syndrome phenotypes: the consequences of chromosomal imbalance.
Down syndrome (DS) is a major cause of mental retardation and congenital heart disease. Besides a characteristic set of facial and physical features, DS is associated with congenital anomalies of the gastrointestinal tract, an increased risk of leukemia, immune system defects, and an Alzheimer-like dementia. Moreover, DS is a model for the study of human ane