A genetic study of syndactyly in Utah

Woolf, Charles M.; Woolf, Robert M.

doi:10.1080/19485565.1973.9988062

Cited by 20 publications

(28 citation statements)

References 4 publications

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“…It is therefore interesting to see that, in our data, the relative proportion of the cases which involved bilateral hands or feet was larger in postaxial than in preaxial group. This finding is consistent with the results obtained by family studies that the recurrence among the relatives was more frequent for postaxial than for preaxial polydactyly (Woolf and Woolf, 1970). All of the six cases involving all four limbs had postaxial polydactyly in at least two limbs.…”

Section: Types Of Polydactylysupporting

confidence: 92%

“…On the other hand, it is likely that preaxial polydactyly occurs by different mechanisms from those of postaxial type. In a genetic study of polydactyly in Utah (Woolf and Woolf, 1970), none of the 94 sibs of the 32 propositi with duplication of the first digit (thumb or large toe) was affected by this anomaly. Because of the low frequency of affected relatives, it was suggested that polygenes or exogenous factors are responsible for this type of polydactyly.…”

Section: Introductionmentioning

confidence: 97%

“…A dominant mutant gene has been suggested to be responsible for a certain proportion of postaxial polydactyly (Woolf and Woolf, 1970;McKusick, 1975). Familial occurrence was noted in 37-39~ of the propositi with postaxial polydactyly in American whites (Woolf and Woolf, 1970) and in inhabitants of South American countries (Castilla et al, 1973).…”

Section: Introductionmentioning

confidence: 99%

“…Familial occurrence was noted in 37-39~ of the propositi with postaxial polydactyly in American whites (Woolf and Woolf, 1970) and in inhabitants of South American countries (Castilla et al, 1973). In those populations, familial tendencies were more remarkable for type B than for type A of postaxial polydactyly, suggesting that these two types are of separate entities.…”

Section: Introductionmentioning

confidence: 99%

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A genetic and epidemiologic study of polydactyly in human embryos in Japan

Shiota

Matsunaga

1978

Jap J Human Genet

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Section: Types Of Polydactylysupporting

confidence: 92%

Section: Introductionmentioning

confidence: 97%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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A genetic and epidemiologic study of polydactyly in human embryos in Japan

Shiota

Matsunaga

1978

Jap J Human Genet

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“…The propositus had acrocephalosyndactyly (Apert's syndrome). Pedigrees of polysyndactyly have been reported in the literature (McClintock, 1935;Goodman, 1965) it may have a polygenic mode of inheritance (Woolf and Woolf, 1970). It is problematical whether the dactyly anomalies present in the father and his three children constitute e. new Polydactylysyndactyly syndrome or whether the condition is Type I syndactyly with the occurrence of pre axial Polydactyly being fortuitous.…”

Section: Syndactyly Associated With Other Anomaliesmentioning

confidence: 99%

CONGENITAL MALFORMATIONS: THE INFLUENCE OF GENETIC AND NONGENETIC FACTORS. Progress Report for the Period January 1, 1972--December 31, 1972.

Woolf¹

1972

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An autosomal dominant triphalangeal thumb: Polysyndactyly syndrome with variable expression in a large Indian family maps to 7q36

et al. 1996

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Hereditary developmental abnormalities of the upper or lower limbs in humans are easily recognizable phenotypes that can be used in the mapping and cloning of genes involved in normal human development. We studied a large Indian pedigree (UR002) with an autosomal dominant triphalangeal thumb (TPT) and polysyndactyly (PSD). The abnormalities were present only in the upper limbs, and the phenotype was fully penetrant. The expression of the phenotype was variable and ranged from unilateral TPT to bilateral TPT, preaxial du-, tri-, or quadruplication of the thumb, or syndactyly of multiple thumbs. There were 112 affected individuals in the pedigree. Previous linkage analyses on apparently similar phenotypes have identified a locus at 7q36 [Heutink et al., 1994, Nature Genet 6:287-291; Tsukurov et al., 1994]. To map the gene responsible for the TPT-PSD in family UR002, we performed linkage analysis in DNA from 47 affected and 7 normal individuals. Marker D7S550, located at 7q36, yielded a maximum LOD score of 11.31 at theta = 0.00. Additional markers in the region also showed no recombination. These data indicate that the gene responsible for the hand abnormality in pedigree UR002 maps to the same region as that in previous pedigrees with similar phenotype. Further analyses of recombinants among all the linked families by using new polymorphic markers will narrow the critical genomic region and facilitate positional cloning of the elusive gene.

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A genetic study of syndactyly in Utah

Cited by 20 publications

References 4 publications

A genetic and epidemiologic study of polydactyly in human embryos in Japan

A genetic and epidemiologic study of polydactyly in human embryos in Japan

CONGENITAL MALFORMATIONS: THE INFLUENCE OF GENETIC AND NONGENETIC FACTORS. Progress Report for the Period January 1, 1972--December 31, 1972.

An autosomal dominant triphalangeal thumb: Polysyndactyly syndrome with variable expression in a large Indian family maps to 7q36

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