摘要:

A mosaic trisomy 13 presenting as a case of cleft lip and palate in the newborn is described. However, when the child was admitted to hospital at the age of 6 weeks because of failure to gain weight and a malformation of the great vessels was demonstrated, cytogenetic studies were carried out. The diagnosis of mosaic trisomy 13 (90% normal, 10% trisomic) was established from a leukocyte culture. Since, occasionally, mosaic trisomy 13 may mimic cleft lip and palate in the newborn, cytogenetic studies are indicated in the presence of any additional anomaly.

ISSN:0001-5652    

DOI:10.1159/000152822

出版商:S. Karger AG    

年代:1976

数据来源: Karger

摘要:

Hb subtyping on a sample of 343 donors in Budapest resulted in the following gene frequencies: Hp1F = 0.139; Hp1S = 0.210; Hp2 = 0.651.

ISSN:0001-5652    

DOI:10.1159/000152823

出版商:S. Karger AG    

年代:1976

数据来源: Karger

摘要:

Data on cleft lip with or without cleft palate are utilized to evaluate a new method for estimating recurrence risk under the polygenic threshold model. The influence of critical factors on the accuracy of the estimated risks are evaluated. The model is relatively sensitive to the estimate of heritability employed and relatively robust to the population prevalence estimate and to family size. The calculated risks for cleft lip with or without cleft palate are contrasted with the empiric figures from studies on Caucasians and Japanese populations.

ISSN:0001-5652    

DOI:10.1159/000152824

出版商:S. Karger AG    

年代:1976

数据来源: Karger

摘要:

A computer method for calculating recurrence under the polygenic threshold model is explained. This approach permits accurate risk evaluation for pedigrees of arbitrary structure and large enough size to supplement empiric risk figures.

ISSN:0001-5652    

DOI:10.1159/000152825

出版商:S. Karger AG    

年代:1976

数据来源: Karger

摘要:

The distribution of transferrin types was investigated in Turkish people. 300 serum samples were studied by acrylamide gel electrophoresis. The only type observed was transferrin C.

ISSN:0001-5652    

DOI:10.1159/000152826

出版商:S. Karger AG    

年代:1976

数据来源: Karger

摘要:

Gene frequencies for 23 genetic biochemical markers have been determined in one sample of Sherpas and two smaller samples, one of Tibetans living in Nepal and one of’mixed’ Nepalese. Sherpas presented a high GPT1 (0.71) and an appreciable incidence of HbE (about 2%). Variant phenotypes for PGM1; PHI, PepB and C were obser

ISSN:0001-5652    

DOI:10.1159/000152827

出版商:S. Karger AG    

年代:1976

数据来源: Karger

摘要:

Principles of sequential and supplementary tests for an increased frequency of a sentinel phenotype are illustrated by Australian and Swedish data on Down’s syndrome. Sequential analysis offers substantial advantages over fixed sample size theory for monitoring teratogenic and other noxious agent

ISSN:0001-5652    

DOI:10.1159/000152828

出版商:S. Karger AG    

年代:1976

数据来源: Karger

摘要:

Blood samples from 580 African leprosy patients living in Rhodesia have been phenotyped for the plasma cholinesterase variants. The Africans have been grouped according to country of origin and tribal affiliation. We have found no individual with an Ea1 gene and are unable to resolve the contradictory evidence for an association between this gene and leprosy. The frequency of the Ef1 gene is higher than that usually found in Caucasian populations, being 0.046 in lepromatous leprosy patients and similar to the 0.056 found in healthy African controls. In tuberculoid leprosy patients the frequency is, however, significantly lower at 0.019. On the other hand, the frequency of the C5+ variant is essentially the same for the tuberculoid leprosy patients and the healthy controls (4 %) while for the lepromatous leprosy patients it is about 7 % approaching the 10–15 % found in many Caucasian population

ISSN:0001-5652    

DOI:10.1159/000152829

出版商:S. Karger AG    

年代:1976

数据来源: Karger

摘要:

Blood samples from 1,614 Africans living in Rhodesia have been phenotyped for the cholinesterase variants at the E1 and E2 loci. 24% of the African population were non-Rhodesian by birth. 1,227 Rhodesians aligned themselves to 20 tribes, 191 Malawians to 8 tribes. 162 Mozambique Africans to 9 tribes and 34 Zambians to 8 tribes. A high frequency of 0.036 for the Ef1 gene, which varies from tribe to tribe, has been found in Rhodesian and Malawian Africans. Similar high frequencies for this gene are recorded for Zambian (0.045) and Mozambique Africans (0.034). The frequencies of the Es1 gene in these groups are 0.013 (Rhodesian), 0.009 (Malawian), and 0.016 (Mozambique African). The small Zambian sample showed evidence for neither the Es1 nor the C5+ electrophoretic variant. The absence of the Ea1 gene in the 1,613 Africans provides additional evidence of the rarity of this gene in negroid populations. The frequency of the C5+ variant in Rhodesian, Malawian and Mozambique Africans, although varying from tribe to tribe within the range of 0–8%, averages 3% in each group. These represent low frequencies for this variant when compared to other populations. No rare or ‘private’ electrophoretic variant has been

ISSN:0001-5652    

DOI:10.1159/000152830

出版商:S. Karger AG    

年代:1976

数据来源: Karger

摘要:

From a study of 320 individuals superoxide dismutase (SOD) variants are shown to be present in Iraq, and it is suggested that this genetic system may be useful for the study of historical population movement in the Middle East. The esterase D gene frequencies show no significant heterogeneity among the different regions of the country.

ISSN:0001-5652    

DOI:10.1159/000152831

出版商:S. Karger AG    

年代:1976

数据来源: Karger