摘要:

CF heterogeneity has been evidenced from both clinical and genetic observations. At least two clinical forms of CF are easily distinguishable: CF with meconium ileus and CF without meconium ileus. The results of prenatal diagnosis have shown that the recurrence rates of CF are different in these two clinical forms. Molecular analysis of Restriction Fragment Length Polymorphisms (RFLPs) tightly linked to the cystic fibrosis (CF) gene defined several types of CF and normal chromosomes in a French sample of 64 families with CF. The CF mutation is tightly linked to one XV‐2C and KM19 RFlPs haplotype but is differently linked to J3.11 RFLP alleles, depending on whether or not the clinical form of CF is associated with ileus. A distortion of the segregation ratio observed between normal and CF haplotypes in the families with ileus could explain the high recurrence rate of CF in such familie

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1989.tb02911.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

摘要:

This study establishes the prevalence rates at birth of the skeletal dysplasias which can be diagnosed in the perinatal period or during pregnancy. Using a population‐based register of congenital anomalies, a prevalence rate of 3.22 0/000 was observed. The most frequent types of skeletal dysplasia were achondroplasia and osteogenesis imperfecta (0.64 0/000, 1/15 000 births), thanatophoric dysplasia and achondrogenesis (0.28 0/000). The mutation rate for achondroplasia was higher in our material than in the other studies: 3.3 times 10‐5per gamete per generation. Our study demonstrates that prenatal diagnosis by ultrasound is possible in some skeletal dysplas

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1989.tb02912.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

摘要:

Fourteen persons have been diagnosed Bloom's syndrome in Japan, with cytological verification in 11. Widely separated birthplaces throughout Honshu, Shikoku, and Kyushu and a parental consanguinity incidence greater than in the general population suggest that the Bloom's syndrome mutation, although very rare, is distributed widely throughout the Japanese population. The locus mutated is the same as in Jews and persons of Western European extraction. The phenotype differs somewhat from most cases recognized elsewhere, in that dolichocephaly is a less constant feature, the facial skin lesion is less prominent, and life‐threatening infections are less common. The characteristic predisposition to neoplasia exists, however, as probably does that to diabetes mellitu

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1989.tb02913.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

摘要:

A family with two members (two generations) exhibiting Turner syndrome is described. Cytogenetic studies on these individuals showed the presence of multiple X chromosome changes. Evidence is presented to show that the maternally inherited X chromosome is the chromosome involved in the structural alterations observed. The effect of a tendency of the maternal X chromosome to break at specific sites on the development of the Turner phenotype and abnormal karyology is discussed.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1989.tb02914.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

摘要:

Hereditary spastic paraplegia (HSP) is rarely inherited in an X‐linked recessive mode in pure and complicated forms. Recently, molecular linkage studies have suggested that these variant X‐linked HSP conditions result from locus heterogeneity. In this paper we report on the clinical and linkage analysis of a kindred with complicated X‐linked HSP. The finding in this family of a map location of the putative HSP gene in the same region as that documented for the pure HSP gene provides evidence that allelic mutations might also be responsible for the variable phenotype encountered in these X‐linked di

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1989.tb02915.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

摘要:

Two siblings born to consanguineous Bedouin parents and grandparents are reported with the phenotypic features of Ehlers‐Danlos Syndrome (EDS), type VI. In addition, the affected individuals have a polyneuropathy as confirmed by nerve conduction velocity, electromyographic and muscle biopsy studies. We propose that this clinical combination represents a distinct type of ED

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1989.tb02916.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

摘要:

A Libyan family with the Hutchinson‐Gilford progeria syndrome affecting three children of two sisters is described. The proband was ascertained because of repeated unhealing fractures. The pattern of inheritance appeared autosomal recessiv

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1989.tb02917.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

摘要:

Genetic linkage between Huntington's disease (HD) and polymorphic DNA markers at the D4S10 locus has been investigated in 16 Scottish families. A maximum lod score of 3.499 at a recombination fraction of 0.07 was found, with 95% confidence limits of 0.02 and 0.22. Only one obvious recombinant was detected, and the wide confidence limits probably reflect the large number of unaffected individuals whose risk could only be estimated empirically.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1989.tb02918.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

摘要:

The finding of chromosome mosaicism is one of the most difficult problems in fetal chromosome analysis. Whether the finding indicates true mosaicism or pseudomosaicism must be investigated. Studies detailing the incidence of true mosaicism and pseudomosaicism have been reported (Hsu&Perlis 1984, Bui et al. 1984, Worton&Stern 1984) but do not correlate pseudomosaicism with any particular type of culture media. Benn&Hsu (1985) compared cell growth and chromosome abnormalities in amniotic fluid cell cultures grown in Chang medium and RPMI‐1640 medium and found no statistically significant difference in the rate of abnormalities in the two media. We have previously shown that Chang medium exhibited more abnormalities which were not verified in second and third cultures (Masia et al. 1986). In the current study we examined 212 cases grown in both Chang and RPMI‐1640 media, and compared apparent single and multiple cell pseudomosaic abnormalities to medium type. The number of observed abnormalities was 22, occurring in 19 of the cases studied. Apparent pseudomosaic chromosome anomalies were observed in 18 Chang cultures and in 4 RPMI‐1640 cultures. Statistical analysis found significant correlation between medium type and the degree of observed pseudomosaic cells. We conclude that the rate at which pseudomosaic cells are observed is partly a function of medium type, and in our laboratory Chang medium caused apparent pseudomosaicism at a greater level than RPMI‐1640

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1989.tb02919.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

摘要:

A coexistent dual deficiency of porphobilinogen deaminase (PBG‐D; EC 4.3.1.8) and uroporphyrinogen decarboxylase (EC 4.1.1.37) in erythrocytes was recognized in five individuals, four males and one female. Clinically, the female and one male were diagnosed as suffering from acute intermittent porphyria (AIP), and the other two males were diagnosed as having porphyria cutanea tarda (PCT). Biochemically, the excretion pattern of urinary and fecal heme precursors exhibited a complex constellation with signs characteristic for both AIP and PCT. A coexistent dual enzyme deficiency of PBG‐D and URO‐D could be confirmed by repeated studies over 10 years. Clinical courses of both disease manifestations were observed. Family investigations have shown that the two disorders do not consistently segregate together. The findings suggest that the dual porphyria reflects a double heterozygous condition of coexistent AIP and PCT genes in the same indiv

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1989.tb02920.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY