摘要:

A set of descriptors was developed and used to code patients with 4p or 9p monosomy or trisomy, “blind” as to their karyotype. Techniques of numerical taxonomy were used to classify the patients on the basis of their phenotypic resemblance. As expected, the results confirm strong phenotype‐karyotype correlations. When cytogenetic interpretations are uncertain, the phenotypic findings may confirm or refute the interpretations. The approach has practical implications, providing further knowledge of phenotypic effects of specific chromosomal segments, which will aid cytogeneticists in their search for karyotypic defects. More important, the results also serve as an excellent model for developing strategies for the classification of syndromes of unknown eti

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1983.tb00430.x

出版商:Blackwell Publishing Ltd    

年代:1983

数据来源: WILEY

摘要:

The autonomic dominant form of craniometaphyseal dysplasia was ascertained in three members of a Mexican family. The clinical and radiological features of the affected members are described and the variability of the condition is emphasized. The proband has striking cranial changes, but moderate long bone abnormalities; the father and the sister, who had mild cranial changes, showed the characteristic metaphyseal widening.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1983.tb00431.x

出版商:Blackwell Publishing Ltd    

年代:1983

数据来源: WILEY

摘要:

Spongy degeneration of the brain is a rare autosomal recessive disorder found predominantly in Ashkenazi Jews. In a recent review, 48 families were found to be affected with this disease. This report deals with a survey of this condition in Israel between the years 1965–1980. Eleven families with 17 affected children were ascertained. All records on these patients were reviewed and each family was visited. All the families were Jewish, comprising 7 Ashkenazi, 1 Sephardi, 2 Oriental and 1 mixed Ashkenazi‐Oriental family. Parental consanguinity was noted only in the Sephardi and Oriental families, suggesting the rareness of the gene in these populations, versus its relatively more frequent occurrence among Ashkenazi Jews. Various clinical and histopathological findings observed in our study are compared to those reported in the literat

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1983.tb00432.x

出版商:Blackwell Publishing Ltd    

年代:1983

数据来源: WILEY

摘要:

An affected family (five cases and one questionable case) with the hypertelorism‐hypospadias syndrome is reported. Inheritance is either autosomal or X‐linked domin

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1983.tb00433.x

出版商:Blackwell Publishing Ltd    

年代:1983

数据来源: WILEY

摘要:

We studied eight cases of the Rubinstein—Taybi syndrome to determine if a detectable chromosome change is associated with this syndrome. High resolution G‐banded analysis of prometaphase chromosomes was carried out on venous blood with two to four karyotypes analyzed for each patient. Initial study of two patients suggested an abnormality in chromosome 15q, but blinded analysis and review of the karyotypes proved to be normal. Therefore, all eight patients had normal G‐banded prometaphase chromosome studies. Because of technical difficulties and observer bias, we urge caution in using high resolution chromosome studies to screen whole karyotypes for suspected abnormal

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1983.tb00434.x

出版商:Blackwell Publishing Ltd    

年代:1983

数据来源: WILEY

摘要:

Analysis of fetal mortality in sibships of 406 probands with cleft lip with or without cleft palate (CL(P)) indicates that the incidence of fetal mortality is significantly greater in sibships of probands with bilateral CL(P) than in those of unilateral CL(P). The difference is even greater when fetal mortality in sibships of male probands with unilateral CL(P) is compared with that of female probands with bilateral CL(P). These findings support a multifactorial two‐threshold concept in which a lower level of liability results in clefting while a higher level of liability causes fetal mortalit

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1983.tb00435.x

出版商:Blackwell Publishing Ltd    

年代:1983

数据来源: WILEY

摘要:

Sub‐epidermal biopsies from normal‐appearing skin of the upper arm were obtained from patients with adenomatosis of the colon and rectum (ACR) and their relatives. A total of 78 different fibroblast cell strains were tested for theirin vitrogrowth characteristics (plating efficiency, cloning efficiency, growth rate, ability to grow in low‐serum medium, cultural morphology, anchorage dependency, contact inhibition at saturation density). The cell strains included 6 from patients with Gardner's syndrome, 25 from patients with ACR without Gardner's syndrome, 9 from “at risk” relatives, and 38 from healthy relatives who were not at an increased risk for ACR. No consistent growth differences were found between the cell strains from the different groups. Instead, this material provides a “normal standard” forin vitrogrowth characteristics of human ski

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1983.tb00436.x

出版商:Blackwell Publishing Ltd    

年代:1983

数据来源: WILEY

摘要:

H‐Y antigen was tested in 13 humans with testicular tissue and disturbed primary and/or secondary sex differentiation. All cases typed H‐Y positive. This finding is in agreement with the idea that testicular tissue only differentiates in the presence of H‐Y an

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1983.tb00437.x

出版商:Blackwell Publishing Ltd    

年代:1983

数据来源: WILEY

摘要:

In our previous paper, we identified 32 recurring base oligomers (1 decamer, 4 octamers, 9 heptamers and 18 hexamers) within the coding sequence for the mouse class I major histocompatibility (MHC) antigen H‐2Kb. The compilation of these recurring base oligomers led to the conclusion that the entire ancestral coding sequence for class I MHC antigens evolved from tandem repeats of the one 45 base‐long primordial building block base sequence.As with most other mammalian genes, the gene for each class I MHC antigen is an admixture of coding and noncoding segments interspersed with each other. Thus, the status of noncoding segments should be clarified in relation to the concept of the primordial building block. The published 4,122 base‐long sequence of human pHLA 12.4 germline gene afforded me an opportunity for clarification. Since the number of recurring base oligomers residing within the entire 4,000 +base‐long sequence proved unmanageably numerous, the two portions 1,200 bases in the total length were singled out. Within these portions containing five noncoding and four coding segments, noncoding and coding segments shared 1 nonomer, 3 octamers, 6 heptamers and 5 hexamers; all the above‐noted base oligomers were derived from different parts of the same 45 base‐long primordial building block. It was thus concluded that not only the coding segments, but the entire ancestral gene for class I MHC antigens evolved from tandem repeats of the 45‐base‐long primordial building block. This new concept of primordial building block was discussed in relation to the mechanism of evolution by g

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1983.tb00438.x

出版商:Blackwell Publishing Ltd    

年代:1983

数据来源: WILEY

摘要:

The association of X‐linked mental retardation with growth retardation, deafness and microgenitalism in a second family confirms the existence of a new syndrom

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1983.tb00439.x

出版商:Blackwell Publishing Ltd    

年代:1983

数据来源: WILEY