Die Entstehung und Ausbreitung von Mutationen beim Menschen

Hanhart, E

doi:10.1007/978-3-642-90908-5_8

Cited by 7 publications

(2 citation statements)

References 25 publications

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“…To our knowledge only five kindreds have been described so far. The first one was studied in 1903 by Ziegner, the others by Mohr and Wriedt (1919), Hanhart (1940), Freire- Pacheco (1966, reexamined by Freire-Maia et al in 1976) and Temtamy (1966). The last one is the only Negro kindred.…”

Section: Discussionmentioning

confidence: 99%

Type A₂Brachydactily — Report of a New Family

Rasore-Quartino¹,

Camera²

1977

Acta genet. med. gemellol.

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Section: Discussionmentioning

confidence: 99%

Type A₂Brachydactily — Report of a New Family

Rasore-Quartino¹,

Camera²

1977

Acta genet. med. gemellol.

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“…Brachydactyly is a denomination which encompasses a large variety of types [Bell, 1951], The A2 or Mohr-Wriedt typewhich generally (not always) affects the middle phalanges of the index fingers and second toes -is extremely rare although clinically and roentgenologically well docu mented [Ziegner, 1903;Mohr and Wriedt, 1919;Hanhart, 1940;Temtamy and McKusick, 1969;Edelson, 1972;Rasore-Quartino and Camera, 1977], We published two short and preliminary descriptions of a large Bra zilian kindred of German origin [FreireMaia and Pacheco, 1966;Freire-Maia et al, 1976] with some suggestions of a segrega tion distortion in favor of affected females. The present paper describes the situation in detail and reviews the literature.…”

Section: Introductionmentioning

confidence: 99%

Mohr-Wriedt (A<sub>2</sub>) Brachydactyly

Freire‐Maia¹,

Maia²,

Pacheco³

1980

Hum Hered

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A large Brazilian kindred of German origin with 117 individuals with the A₂(Mohr-Wriedt) brachydactyly is presented. Some drawings based on radiographs and revealing the high phenotypic spectrum of the malformation are presented. Our corrected data suggest the presence of a segregation distortion in favor of the affected among the daughters of affected mothers (45:25; χ²₁= 5.71*). This apparent anomalous segregation is not significant in the other comparisons made, although the p values corresponding to the χ²₁ for two of them (78:56 and 109:83) are near 5%. Other ‘similar’ (although possibly different on the genetic aspect) A₂ cases in the literature do not present any evidence of anomalous segregation. The dermatoglyphic disturbances verified in the affected index fingers seem to be mere allophenes of the basic dysmorphogenetic process which leads to the (autophenic) bone malformations. There is no birth order effect on the affected. Fertility seems to be higher among them than among their normal sibs.

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