摘要:

A unique interstitial deletion of the long arm of chromosome 6 involving bands q22.2 and q23.1 was observed in a patient referred for craniostenosis and developmental delay. The associated phenotypic anomalies are compared with other reported cases of deletion 6q involving adjacent regions.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1988.tb03411.x

出版商:Blackwell Publishing Ltd    

年代:1988

数据来源: WILEY

摘要:

We report a family with oligosymptomatic EEC syndrome. Whereas the mother had most symptoms of this syndrome, one son presented a minimal ectrodactyly and a highly arched palate and one daughter showed only a unilateral stiff thumb. The variability of this syndrome is discussed. The penetrance of this dominantly inherited disorder is judged to be reduced to about 78%.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1988.tb03412.x

出版商:Blackwell Publishing Ltd    

年代:1988

数据来源: WILEY

摘要:

A 17‐year‐old male was referred for evaluation because of short stature and severe mental retardation. Major clinical findings included microphthalmia, micrognathia, low‐set ears, a prominent beaked nose, clubbing of digits, and premature greying of hair. Cytogenetic analysis revealed a 45,XY, ‐1/46,XY/47,XY,+1 mosaicism in lymphocyte cultures, a 45,XY, ‐1/46,XY mosaicism in skin fibroblasts, and fra(lp) sites in 2% of the metaphases from lymphocyte, fibroblast and bone marrow cultures. Post‐zygotic non‐disjunction causing this mosaicism is believed to be responsible for the patien

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1988.tb03413.x

出版商:Blackwell Publishing Ltd    

年代:1988

数据来源: WILEY

摘要:

In the Arab population of Kuwait of approximately 1.3 million, 26 cases in 15 families were ascertained to have Bardet‐Biedl syndrome (20 cases in 13 families) or Laurence‐Moon syndrome (6 cases in 2 families). The apparently increased frequency of these interrelated autosomal recessive syndromes in Arabs is discussed in view of the high consanguinity rate and large family si

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1988.tb03414.x

出版商:Blackwell Publishing Ltd    

年代:1988

数据来源: WILEY

摘要:

The Robertsonian translocation t(13;14) (p11;q11) was studied in three families with probable common ancestry in Eastern Finland. In the largest family the translocation has segregated through at least nine generations. The same family also included a female who was homozygous for t(13;14). No clear‐cut effect of the translocation on fertility could be demonstrated and only one case of trisomy 13 was recorded in the offspring of t(13;14) carriers. The results are discussed, with implications for human chromosomal evolutio

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1988.tb03415.x

出版商:Blackwell Publishing Ltd    

年代:1988

数据来源: WILEY

摘要:

This report presents the first example of male transmission of Apert acrocephalosyndactyly syndrome. Female transmission has been reported in the five previous well‐documented cases of dominant inheritance of the syndrom

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1988.tb03416.x

出版商:Blackwell Publishing Ltd    

年代:1988

数据来源: WILEY

摘要:

A new rare fragile site, fra(8)(q24.1) (Takahashi et al. 1987), was characterized. This site was confirmed to be heritable from the pedigree analyses of two families. Its expression was induced by AT‐specific DNA‐ligands: distamycin A, Hoechst 33258, berenil and DAPI, but not in M‐F10‐, BrdU‐ and control‐cultures. The incidence has already been evaluated to be 0.71% (6/845) in a healthy population (Takahashi et al. 1987). Thus, a fragile 8q24.1 in the present study can be classified into the rare heritable distamycin A‐i

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1988.tb03417.x

出版商:Blackwell Publishing Ltd    

年代:1988

数据来源: WILEY

摘要:

The clinical history and subsequent progress of a child with an interstitial deletion in the short arm of chromosome 6 is described. This abnormality coupled with a reduced Hageman factor (Factor XII) led to an earlier publication which suggested that this gene was localised to the breakpoint region involved. A review of similar phenotypes from the literature is presented.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1988.tb03418.x

出版商:Blackwell Publishing Ltd    

年代:1988

数据来源: WILEY

摘要:

The within‐pair difference in lipid levels was examined in 142 monozygotic (MZ) twin pairs drawn from the population‐based Norwegian Twin Panel. Mean within‐pair difference in serum total cholesterol was lower in MZ pairs who were heterozygous for blood group Kidd genes or homozygous for the Jkbgene than in pairs who were homozygous for the Jkbgene. The difference between the two categories of homozygotes was significant at the 2% level. The analyses suggest that the main reason for the difference observed is a restrictive effect of the Jkbgene on total cholesterol variability. No effect on triglycerides or HDL cholesterol variability was detected and there was no association between Kidd blood groups and sex and age‐adjusted levels of cholesterol, triglycerides or HDL cholesterol. The present data confirm findings we reported when we introduced the study of within‐pair variability in MZ twins as a method to analyse gene‐environment interactions and validate the “variability gene” concept. A person's net risk for coronary heart disease may depend on his or her combination of “level genes” and “variability genes” as well as on environmenta

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1988.tb03419.x

出版商:Blackwell Publishing Ltd    

年代:1988

数据来源: WILEY

摘要:

A 46,XX/46,XX,del(20)(p11) mosaicism was identified in a 10‐month‐old female infant with multiple congenital anomalies, development retardation and failure to thrive. The 20p partial deletion was observed in 50% of the cells examined. Both parents had normal phenotype and karyotype. Only four other patients with partial 20p deletion are known and they are not mosaics. Their clinical findings are similar to those of our patient; in particular, they share anomalies of the vertebral column such as segmentation errors and “butterfly‐shaped”

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1988.tb03420.x

出版商:Blackwell Publishing Ltd    

年代:1988

数据来源: WILEY