摘要:

The statistical analysis of phenotypic data available on 180 cases of the Brachmann-de Lange syndrome (BDLS), (161 previously published, 19 personally studied) documented the incomplete nature of most case reports, and the fact that investigators are more likely to mention abnormal traits than normal traits in their reports; it did not uncover evidence of (etiologically pertinent) heterogeneity of the BDL phenotype. The finding of a C-autosomal ring in one of our patients and the available genetic and cytogenetic data are discussed in the context of the hypothesis that the BDLS is recessively inherited and that the homozygous state of this incompletely recessive gene predisposes to early zygotic chromosome breakage and/or chromosome loss which is lethal in most cases. The hypothesis of autosomal recessive inheritance is further strengthened by the discovery of a new BDL case (PM) at Central Wisconsin Colony in Madison (courtesy Dr. E. G. Kaveggia); this 35-year-old woman was the product of an uncle/niece marriage.

ISSN:0001-5652    

DOI:10.1159/000152379

出版商:S. Karger AG    

年代:1971

数据来源: Karger

摘要:

The incidences of cleft lip ± cleft palate without other defects and cleft lip ± cleft palate with other defects in Budapest between 1962 and 1967 were 1.03 and 0.14 per 1,000 total births, respectively. The incidences of posterior cleft palate without other defects and cleft palate with other defects were 0.27 and 0.11%0. The more important epidemiologic characteristics of cleft lip ± cleft palate group without other defects are the following: a significantly more frequent localization of cleft lips on the left side, an excess in males, a monthly peak in March, a shift toward smaller weight groups, an increased frequency of mothers above 35 years and fathers above 40 years as well as of 4th and later birth orders. On the contrary, cleft lip ± cleft palate with other defects occurs with the same frequency in both sexes and in all 3 localizations, with higher frequency in first births and results in more severe outcomes. The cleft palate group without other defects shows a female preponderance and 29.9% of these cases are under 2,500 g. A lack of female preponderance, more severe outcome and a higher frequency in first births are characteristic for cleft palate with other defects. Cleft lip ± cleft palate and cleft palate with other defects may be components of a number of syndromes, while both the cleft lip ± cleft palate without other defects and perhaps the posterior cleft palate without other defects may be a nosological e

ISSN:0001-5652    

DOI:10.1159/000152380

出版商:S. Karger AG    

年代:1971

数据来源: Karger

摘要:

The first dermatoglyphic syndrome, called ‘Ridges-off the-End’, is described in a family from Dorset, England. The syndrome appears to be inherited as an autosomal dominant, and consists of: (1) Ridges running vertically off the end of finger and toe prints instead of forming the normal patterns, (2) a tendency for the fingertip patterns to partly cross the distal interphalangeal flexion crease, with the triradius en or below the f coon crease, (3) a tendency for several of the patterns to take their exit on the radial border of the fingers, (4) a complete absence of arches, whorls, twinned loops, lateral pocket loops and composites in every affected member, (5) a tendency for inter-digital patterns on the palm to extend more proximally than normal, (6) considerable distal displacement of the t triradius to a t” or t’” position, and (7) a peculiar vertical ‘crack’ in the ridges on the hypothenar eminence above the hypothenar pattern. A second family with ‘ ridges-off-the-end’ again inherited as a dominant character has been found, and it is postulated that there are other inherited dermato

ISSN:0001-5652    

DOI:10.1159/000152381

出版商:S. Karger AG    

年代:1971

数据来源: Karger

摘要:

Sex chromatin survey was performed among 1,000 children with mental retardation. Fourteen aberrations were found, with a conspicuously high frequenc(9/406) in the group of the grossly defectives (IQ < 20).

ISSN:0001-5652    

DOI:10.1159/000152382

出版商:S. Karger AG    

年代:1971

数据来源: Karger

摘要:

Serum samples from Polar Eskimos, Inugsuk Eskimos in east Greenland and the mixed Eskimos in Julianehåb were tested for variants in albumin fraction. Only albumin A was found

ISSN:0001-5652    

DOI:10.1159/000152383

出版商:S. Karger AG    

年代:1971

数据来源: Karger

ISSN:0001-5652    

DOI:10.1159/000152384

出版商:S. Karger AG    

年代:1971

数据来源: Karger

摘要:

The study of ADA phenotypes in 116 matings with their 406 children is reported. Excellent agreement with the hypothesis of a codominant autosomal in heritance was found. In a series of 247 unrelated adult Danes the gene frequency was found to be 0.933 for ADA1 and 0.067 for ADA2.

ISSN:0001-5652    

DOI:10.1159/000152385

出版商:S. Karger AG    

年代:1971

数据来源: Karger

摘要:

By stepwise regression analysis the levels of the alkaline phosphatases in maternal serum and in cord serum were studied in relation to each other and to 19 other factors. The maternal serum heat-stable alkaline phosphatase level was found to be influenced by the alkaline phosphatase level in placental tissue, the placental alkaline phosphatase factor I1 and the maternal serum acid phosphatase level. The maternal serum heat-sensitive alkaline phosphatase level was found to be influenced by the maternal serum acid phosphatase level, the cord serum alkaline phosphatase level, the number of previous deliveries and the birth weight. The two last-mentioned regression estimates were negative. The cord serum alkaline phosphatase level was found to be influenced by the maternal serum heat-sensitive alkaline phosphatase level, the cord serum acid phosphatase level, the maternal age and the sex of the infant. The following factors showed no statistically significant effects on the maternal and cord serum alkaline phosphatase levels: the placental alkaline phosphatase factors F1 and S1 the haptoglobin groups, the ABO blood groups of mother and infant, the maternal Rh blood group, the pregnancy zone protein, the placental weight, the gestation length and the number of previous abortions.

ISSN:0001-5652    

DOI:10.1159/000152386

出版商:S. Karger AG    

年代:1971

数据来源: Karger

摘要:

1,372 Dravidians and 309 Indo-Aryans from different parts of India were investigated for the presence of G-6-PD deficiency by the method of Motulsky and Campbell-Kraut [19]. The incidence of this deficiency was 1.31, 2.13 and 2.79% among the Dravidians, Sikhs and non-Sikh Indo-Aryans respectively.

ISSN:0001-5652    

DOI:10.1159/000152387

出版商:S. Karger AG    

年代:1971

数据来源: Karger

摘要:

The study of AK phenotypes in 115 matings with their 404 children is reported. Excellent agreement with the hypothesis of a codominant autosomal inheritance was found. In a series of 239 unrelated adult Danes the gene frequency was found to be 0.964 for AK1 and 0.036 for AK2.

ISSN:0001-5652    

DOI:10.1159/000152388

出版商:S. Karger AG    

年代:1971

数据来源: Karger