摘要:

Chromosome analysis in a 31‐year‐old woman referred for primary amenorrhea, revealed a very high incidence of chromosome aberrations. She had microcephaly and immunodeficiency. Her healthy parents were consanguineous (1/32) and a younger sister, also with primary amenorrhea, died when 20 years old with a malignant lymphoma.Chromosome studies were performed on lymphocytes and fibroblasts and in both tissues a high proportion of metaphases with multiple chromosome aberrations was found. Clonal and sporadic rearrangements, consisting of balanced and unbalanced translocations and dicentric chromosomes were more numerous than chromatid and chromosome breaks. In the lymphocytes the same unbalanced translocation t(8q;21q) was present in about 59% of the metaphases. Rearrangements involving chromosomes 7 and 14, similar to those described in patients with ataxia‐telangiectesia were found, but with a lower frequency. Sister Chromatid Exchanges were not increased. Chromosome and chromatid abnormalities were enhanced after exposure of cells to mitomycin C but not after exposure to the radiomimetic drug bleomycin.Clinical and cytogenetic characteristics of the patient are compared with those of syndromes (Ataxia‐Telangiectesia and Werner's syndrome) or isolated cases (Weemaes et al. 1981, Sperling 1983, Spinner et al. 1985) whose features are similar to those of our patient. This case might represent a new chromosome instability syndrome due to a recessive m

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1986.tb01892.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY

摘要:

Sexual dysmorphism should be considered likely in cases in which H‐Y‐phenotype and XY complement are found together. In the case described here, a pregnancy was terminated at nineteen weeks of gestation after 45, X and 46, XY cell lines were detected among cultured amniocytes. The fetus was a male with hypospadias and intraabdominal testes containing irregular tubules and hyperplastic interstitium. Cultured skin fibroblasts, containing 45, X and 46, XY lines in ratio of 18:2, were typed H‐Y antigen negative. This underscores the danger of predicting gonadal type on the basis of somatic H‐Y ph

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1986.tb01893.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY

摘要:

Twenty‐six mentally retarded patients from a North Swedish geographically isolated population were studied. The mentally retarded patients were short with pycnic body type. Neurological and psychiatric stigmata of variating functions and degrees were recorded. Neurogenic hearing defects, impaired vision, pathological EEG, widened subarachnoidal space found in CT, were among these stigmata. In three patients a urinary substance, probably urocanyl‐glycine, was found. The erythrocyte uroporphyrinogen‐I‐synthetase activity was high in four patients. Chromosome analysis showed some abnormalities which, however, were not systematically present. In the near family 23 persons with schizophrenia were found. The relationship between the mental retardation and the schizophrenic psychosis in the present families has not been explained. Further studies are called for to elucidate the genetic and environmental factors responsible for the two con

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1986.tb01894.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY

摘要:

We describe a mother and her male infant affected with a craniotubular dysplasia characterized by severe craniofacial hyperostosis and sclerosis with obliteration of paranasal sinuses and foramina of the skull base. Subsequent severe bilateral hearing loss and facial diplegia with relative sparing of the optic nerves were noted. The long bones show extreme asymmetric hyperostosis and sclerosis of the diaphyses and evidence of a modelling defect in the metaphyses. The spine, ribs, clavicles, and pelvis all show some degree of sclerosis and defective modelling, but are less severely involved. According to the definition by Gorlin, this disorder would best be classified as craniodiaphyseal dysplasia. Distinguishing features in these two patients as contrasted to previously described cases include a greater degree of hyperostosis and sclerosis than that described for other patients with craniodiaphyseal dysplasia, apparent dominant transmission, and significant metaphyseal involvement.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1986.tb01895.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY

摘要:

A 2.5‐year‐old girl who presented with abdominal distension, hepatomegaly, coarse fades, hirsutism and contraction deformities was investigated for mucopolysaccharidoses. Urinary excretion showed increased total glycosaminoglycans (105 mg/mmol creatinine; normal for age 9–20 mg/mmol) with marked increases of dermatan and heparan sulphates. A number of lysosomal enzyme activities were measured on leucocytes, serum and cultured fibroblasts. Normal or high activities were found for a‐iduronidase, N‐acetylgalactosamine‐6‐sulphatase, β‐galactosidase, arylsulphatase B and /J‐glucuronidase. However a marked deficiency ofiduronate sulphate sulphatase activity was observed, consistent with a diagnosis of Hunter's disease. Activities were reduced to less than 2% of mean control values in the patient's leucocytes, serum and cultured fibroblasts. Normal activities were measured in samples from the father and younger sister but a partial deficiency (43% of control serum) was found in the mother. Chromosome studies on the patient revealed a partial deletion of the long arm of one X‐chromosome, most probably of band Xq25, which was not inherited from either parent. Studies using BrdU indicated that the deleted X chromosome was consistently late replicating, and as a result the Hunter gene was fully expressed on th

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1986.tb01896.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY

摘要:

Two sisters born to non‐consanguineous healthy parents are described who present the following abnormalities: macrocephalus, prominent forehead, hypertelorism, absence of the corpus callosum, inguinal hernias, duplication of hallucal phalanges and severe mental retardation. The older sister in addition had cleft palate, while only the younger had a supratentorial cyst between cerebrum and cerebellum and epileptic fits. After 6 sporadic cases, this is the first instance of siblings with the acrocallosal syndrome. This observation and definite and possible parental consanguinity in two further patients suggest that this syndrome might be recessively inherite

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1986.tb01897.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY

摘要:

A new “postaxial polydactyly‐progressive myopia” syndrome of autosomal dominant inheritance is delineated on the basis of nine affected persons in four generations of one f

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1986.tb01898.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY

摘要:

A new case of multiple sulphatase deficiency with onset at birth is described. The patient had many dysmorphic features and hydrocephalus, similar to one other case with early onset described in the literature. The new patient differed from the other case in having chondrocalci‐ficans congenita, heart abnormalities and an abnormal fold of tissue present between the laryngeal inlet and the oesophagus. Excessive mucopolysacchariduria was present and there was profound deficiency of all sulphatases examined in plasma, leucocytes and cultured skin fibroblast

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1986.tb01899.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY

摘要:

A syndrome of spastic paresis, mental retardation and glaucoma has been described only once previously (Heijbel&Jagell 1981). We describe three brothers, products of a marriage between first cousins once‐removed, who appear to have the same syndrome. The brothers are not dysmorphic but they have slowly progressive spastic diparesis, moderate mental retardation and glaucoma with secondary cataracts. Documentation of a second consanguineous kindred with this triad of features supports the view that this is a distinct entity with an autosomal recessive mode of inheritanc

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1986.tb01900.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY

摘要:

We have examined the apo E phenotype frequencies in the Japanese population (n = 576, 16–78 years of age). Apo E phenotypes were determined by the rapid flat gel isoelectric focusing method that we previously reported. The apo E phenotype frequencies in the Japanese were 0.3% for E2/2, 6.1% for E3/2, 71.9% for E3/3, 0.7% for E4/2, 19.3% for E4/3 and 1.7% for E4/4. The apo E allele frequencies were 0.037, 0.846 and 0.117 for the e2, e3 and e4 alleles, respectively. These frequencies were compared with those in the Caucasian populations (n = 3033) reported by Sing&Davignon (1985). There was a significant difference in the apo E phenotype frequencies between the Japanese and Caucasian populations. In addition, a significantly lower frequency of the e2 and e4 alleles and a significantly higher frequency of the e3 allele were found in the Japanese than those reported for the Caucasian populations. It is concluded that there is a racial difference in the apo E allele frequencies between the Japanese and Caucasian population

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1986.tb01901.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY