Critical Remarks on Polydactyly as Atavism.
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In the PD strain of rats, male pd homozygotes never sire, whereas male heterozygotes and female hetero- and homozygotes are fertile. In order to investigate the cause of infertility, pd/pd males were examined for their reproductive ability and gross and histological changes in the reproductive organs. Mating ability of pd/pd males was comparable to that of pd/+ males when a 2 week cohabitation procedure was employed. Cryptorchidism, which is considered to be a cause of infertility, was observed in 63% of the 12 week old pd/pd males. However, this abnormality frequently was observed unilaterally and the incidence of bilateral cryptorchidism was only 13%. Although the relative weights of descended testes and epididymides were comparable between the pd/pd and pd/+ males at 3 and 6 weeks of age, the values at 9 and 12 weeks of age were significantly lower in pd/pd males than in pd/+ males. A marked difference was not noted in relative weight changes of the seminal vesicles and prostate between the pd/pd and pd/+ males. Histological examination revealed defects in spermatogenesis in both descended and undescended testes in pd/pd males. The changes first appeared at 9 weeks of age and included vacuolation of nuclei of spermatocytes and spermatids, degeneration of spermatids, and occasionally multinucleated giant cells in the seminiferous tubules. In accessory sexual organs such as the epididymides, seminal vesicles, and prostate, no histological abnormalities were detected. These findings indicate that the substantial cause of infertility in pd/pd males is a disorder of spermatogenesis through which functionally normal spermatozoa are not produced.
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Excessive longitudinal segmentation of the radial portion of the limb bud results in the clinical presentation of duplicated and triphalangeal thumbs. These are common congenital problems with various possible associated anomalies and variable inheritance patterns. Reconstruction of a thumb with stable joints, muscle balance, and good alignment requires attention to each tissue component at the time of the initial surgery.
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The present paper is concerned with a report on a kin affected with Pelger-Huet's anomaly (PHA). 17 living heterozygous carriers of the anomaly are covered by the pedigree. Three further dead carriers of anomaly could be detected by genealogical studies. Polydactylia was found in three members of the kin, viz. in two sisters and a niece of second degree. Polydactylia could be found to have occurred at the same place in all these three persons concerned, with only one of them being a carrier of PHA: in all cases it was the doubling of the fifth toe of the right leg. This localisation of the same kind favours the assumption that this malformation is caused by genetics, however, without its having any genetical connection with PHA. The hypothesis was put forth that an enzyme defect is responsible for this hyposegmentation which simultaneously could have an impact on further elements of the mesenchymal tissue playing an important part in the histogenetic differentiation of organs.
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