Dermatoglyphic
Mostrando 13-24 de 34 artigos, teses e dissertações.
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13. De novo interstitial deletion del(1)(p21p32).
A girl aged 14 years 9 months, overweight, with severe psychomotor retardation, short stature, a sheep-like face, malformed ears, skeletal and dermatoglyphic abnormalities, and partial deletion of the short arm of chromosome 1 is presented. The karyotype was 46,XX,del(1)(qter to p22::p32 to pter).
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14. Four new cases of ring 21 and 22 including familial transmission of ring 21.
Four new cases of ring G chromosomes are presented including one family in which the ring 21 is present in a mother and in her daughter, who has 47, XXX, r(21) chromosomes. The clinical and dermatoglyphic findings in r21 and r22 syndromes are reviewed.
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15. Familial t(8;15)(p23.3;q22.3): report of two cases with dup(15) (q22.3----qter).
Two affected first cousins with duplication of 15(q22.3----qter) are reported. This resulted from a familial t(8;15)(p23.3;q22.3) translocation. The findings in these patients are compared with each other and with six other published cases. Anthropometric and dermatoglyphic findings are summarised.
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16. Dermatoglyphs and chromosome mosaicism in parents of children with trisomy 18.
Parents of patients with Down's syndrome show dermatoglyphic features intermediate between the affected and the normal population. Dermatoglyphs were studied on the parents of 19 cases of trisomy 18, but no similar "intermediate" traits were discovered. The number of cases studied needs to be enlarged before it can definitely be stated that trisomies 18 and
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17. De novo tandem duplication 9p (p12----p24) with normal GALT activity in red cells.
A 3 month old boy with a tandem duplication 9p (p12----p24) is reported. Both clinical and dermatoglyphic features were consistent with those of the trisomy 9p syndrome. However, the red cell galactose-1-P uridyl transferase (GALT) activity was normal despite the presence of the duplicated segment 9p13.
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18. A syndrome of hypohidrotic ectodermal dysplasia with normal teeth, peculiar facies, pigmentary disturbances, psychomotor and growth retardation, bilateral nuclear cataract, and other signs.
This paper describes a 7-year-old girl with trichodysplasia, normal teeth, onychogryposis, hypohidrosis, psychomotor and growth retardation, dry and warm skin with follicular hyperkeratosis, pigmentary disturbances (hyper- and hypochromic spots), bilateral nuclear cataract, dermatoglyphic anomalies, and other signs. This condition is considered a new form of
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19. Clinical experience with trisomies 18 and 13.
The clinical, cytogenetic, dermatoglyphic, and postmortem observations of the 29 cases of trisomy 18 and 19 cases of trisomy 13 seen in the Department of Medical Genetics from 1963-76 are summarised. Chromosomes were studied in all and 30 were banded. One patient had tertiary trisomy 18 and 8 had translocations of chromosome 13. The features of these patient
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20. Dermatoglyphic findings in 54 triple-X females and a review of some general principles applying to the soles in sex chromosome aneuploidy.
The dermatoglyphic findings from 54 females with XXX sex chromosomes are reported. Sole prints were available for study in 33 cases. Compared with female controls, an excess of radial loops and arches and a reduced mean for total finger ridge-count were the main peculiarities on the fingers. On the palms, the absence of pattern in areas I and II, and wider r
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21. 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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22. Camptodactyly, with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases: Tel Hashomer camptodactyly syndrome.
A syndrome characterized by camptodactyly, distinct facial features, multiple musculoskeletal defects, and unique dermatoglyphic changes is described in two sisters born of consanguineous parents. In 1972 this same constellation of findings was first reported in two sibs from a different ethnic origin. This heritable disorder of connective tissue termed the
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23. Evidence for Polygenic Epistatic Interactions in Man?
Studies of multifactorial inheritance in man have ignored nonadditive gene action or attributed it entirely to dominance. Reanalyses of dermatoglyphic data on monozygotic and dizygotic twins, siblings and parents and offspring suggest that a substantial proportion of variation in total finger pattern intensity is due to epistatic interactions between additiv
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24. Dermatoglyphics: A Diagnostic Aid?
Dermatoglyphics of patients suffering from diabetes, schizophrenia, duodenal ulcer, asthma, and various cancers have been contrasted and significant differences in the digital ridge counts, maximum atd angles, and distal palmar loop ridge counts have been found. A discriminant analysis of the digital ridge counts was performed and the function was used to at