摘要:

The Roberts syndrome consists of tetraphocomelia, cleft lip/palate, and prominence of the phallus. This paper summarizes the major phenotypic abnormalities of 17 previously reported cases and reports five new cases. The features to be considered in the diagnosis of the Roberts syndrome arc: (1) tetraphocornelia with ectrodactyly and syndactyly, (2) cleft lip/palate with protrusion of the intermaxillary portion of the upper jaw, (3) ocular hypertelorism, (4) prominence of the phallus, (5) cryptorchidism in the male, and (6) intra‐ and extra‐uterine growth retardation. Analysis of pedigrees suggests autosomal recessive inheritance. The morphologic appearance of the metaphasc chromosomes in one case was unusual and unexplai

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1974.tb01652.x

出版商:Blackwell Publishing Ltd    

年代:1974

数据来源: WILEY

摘要:

Examination by light microscopy of cells of various constitutions with one Y, two Ys, or no Y was made by six experienced cytogeneticists in order to ascertain accuracy in identification of the Y chromosome by morphologic criteria. Results showed that this approach is subject to error, especially if the quality of the spreads is not very good. Refined techniques and/or additional information appear to be essential.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1974.tb01653.x

出版商:Blackwell Publishing Ltd    

年代:1974

数据来源: WILEY

摘要:

The distribution of ABO blood in two groups of people with Australia antigen was studied (121 blood donors and 128 patients) and in3,091 controls was investigated. There was a significant excess of A in comparison with o when the two groups were combined, and when the two groups were tested for (A + B): (AB +O) individually and together, both were found to be statistically significant. The results are discussed.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1974.tb01654.x

出版商:Blackwell Publishing Ltd    

年代:1974

数据来源: WILEY

摘要:

A screening for abnormal haemoglobins was carried out on the patients admitted to a Childrens Hospital during a 16‐month period using a rapid electrophoretic technique, with the purpose of finding the prevalence of HbS carriers. The results of this study show that the Cuban population has a high percentage of heterozygotes for HbS. The importance of such a screening for medical care is discussed.The frequency of abnormal “rare” haemoglobins found during the course of this survey is also

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1974.tb01655.x

出版商:Blackwell Publishing Ltd    

年代:1974

数据来源: WILEY

摘要:

A 5‐year‐old girl with an oculo‐cerahral syndrome born to consanguineous parents is presented. The patient had glycinuria in addition to the usual findings of cloudy corneas, spastic diplegia and motor and mental retardation encountered in patients with this syndrome. Interestingly, tapetoretinal dystrophy was found in two maternal u

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1974.tb01656.x

出版商:Blackwell Publishing Ltd    

年代:1974

数据来源: WILEY

摘要:

Immunological and genetic studies were carried out on 31 patients with ataxia‐telangiectasia (19 males and 12 females) from 23 families, their 14 normal siblings and 32 of the parents. Parental consanguinity was discovered in 14 families. Six families had more than one affected sibling. The serum IgM levels of the affected children were higher than in controls, but slightly lower than normal values were obtained in the normal sibs and the parents. There was concordant absence of IgA in all affected siblings in three families and presence of IgA in all affected siblings of three other families, indicating that cellular immunity was concordantly impaired in these families. It is suggested that this condition occurs in at least two forms. In the first form neuro‐oculo‐cutaneous manifestations are found in association with IgA deficiency and impaired skin hypersensitivity, and in the second form these manifestations are found without IgA deficiency but with slightly impaired skin hypersensi

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1974.tb01657.x

出版商:Blackwell Publishing Ltd    

年代:1974

数据来源: WILEY

摘要:

The problem of the major clinical pathological signs required for the diagnosis of the Meckel syndrome is presented. A case showing only one of the three major signs of the syndrome is described. It is concluded that at present some cases showing only one major sign and a combination of minor signs could be interpreted in two alternative ways: 1) That they are cases of the real syndrome with unusually few manifestations. 2) That they are phenocopies or are examples of a Meckel‐like syndrome without an etiological relation to the classical syndrome. Follow‐up of the families and the presence or absence of typical cases of Meckel syndrome among siblings may help in deciding between the above possibilit

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1974.tb01658.x

出版商:Blackwell Publishing Ltd    

年代:1974

数据来源: WILEY

摘要:

A kindred in which four males have been affected with dextrocardia and associated congenital heart defects is presented. The results of cardiac examination of members of this kindred are described. The pedigree suggests X‐linked recessive inheritance. Possible uses of the genetic information in genetic counselling and prevention of congenital heart disease in several branches of this pedigree are demonstrate

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1974.tb01659.x

出版商:Blackwell Publishing Ltd    

年代:1974

数据来源: WILEY

摘要:

Four schizophrenic children were treated with weekly doses of LSD‐25 as part of a study of the effects of this drug on beharior. During the course of the study the karyotypes of each child were examined before, during, and after drug treatment to cvaluate the possibility of chromosome damage. There was no increased chromosomal damage notcd on exposure to LSD either at the time of treatment or up to one year late

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1974.tb01660.x

出版商:Blackwell Publishing Ltd    

年代:1974

数据来源: WILEY

摘要:

Multiple developmental anomalies in a male infant were associated with morphological abnormalities of a No. 2 and a No. 3 chromosome. Banding studies revealed a complex rearrangement interpreted as a reciprocal translocation and an insertion following five breaks, with no apparent loss of chromosomal material. Karyotype:46, XY, t (2p‐; 3q+), i (2q+; 3p‐) nomp (not maternally or paternally inherit

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1974.tb01661.x

出版商:Blackwell Publishing Ltd    

年代:1974

数据来源: WILEY