摘要:

Two brothers are reported with a previously undescribed multiple congenital anomaly/ mental retardation (MCA/MR) syndrome consisting of characteristic appearance, severe mental and growth retardation with visual impairment and deafness, dolichocephaly, hypotelorism, a “scalloped”, laterally overlapping upper eyelid, large corneas, abnormal auricles, dental dysplasia, generalized skeletal dysplasia (which includes overtubulation of the long bones with the distal long bones being relatively shorter than the proximal long bones), high fingerprint ridge count, cryptorchidism, hypospadias and spasticity. They have an apparently normal karyotype. The older of the two, now 13 years old, is receiving total institutional care. The younger died of lymphosarcoma at the age of 5 8/12 years, and at autopsy was found to have markedly abnormal cerebral cortical cyto‐architecture. These cases are reported as a “provisionally private syndrome”, but with the possibility in mind that further studies may prove theNsyndrome to be either an autosomal recessive or an X‐linked rece

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1974.tb02085.x

出版商:Blackwell Publishing Ltd    

年代:1974

数据来源: WILEY

摘要:

A study of the frequencies and segregation behaviour of fluorescent chromosome polymorphisms within a Dutch population is presented. The polymorphism patterns for chromosomes 1, 3, 4, 9, 13, 14, 15, 16, 21 and 22 were scored from 221 (108 female and 113 male) individuals with normal karyotype. Males and females were both found to carry an average of 4 polymorphic chromosomes per person, and approximately half of these were present in chromosomes No. 3 and 13. There was no significant difference between the frequencies per chromosome for the two sexes, and the data for chromosomes 3, 4, 14, 21 and 22 fitted a Hardy‐Weinberg distribution. However, for chromosomes 13 and 15 an excess of heterozygotes and a lack of homozygotes was observed. Although the segregation behaviour of most chromosomes studied appeared to be mendelian, the segregation of chromosome No. 13 showed a lack of homozygotes without polymorphism. Possible mechanisms accounting for this effect are discusse

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1974.tb02086.x

出版商:Blackwell Publishing Ltd    

年代:1974

数据来源: WILEY

摘要:

In studying the bone marrow chromosomes of patients with polycythemia vera (PCV) and chronic myelogenous leukemia (CML), we have recently identified, by the current banding techniques, two cases of acquired trisomy 8. One was a patient with typical PCV and the other had a diagnosis of atypical CML. An extra No. 8 chromosome was found in approximately 60% of the marrow cells of the patient with PCV and 75% of the marrow cells of the patient with CML. Lymphocyte cultures from both patients revealed a normal chromosomal constitution. To our knowledge, thus far, there have been at least 9 cases of acquired trisomy 8 identified in patients with either PCV or CML and a total of 6 cases of acquired trisomy 9 in various hematological disorders. It is possible that acquired trisomy 8 and 9 are the most commonly involved aneuploidies in various hematological disorders especially CML and PCV. The relationship of acquired trisomy 8 or 9 to blastic crisis is to be determined.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1974.tb02087.x

出版商:Blackwell Publishing Ltd    

年代:1974

数据来源: WILEY

摘要:

The cerebellar ataxia of Marie (SCA) was investigated in Western Norway, a region with a population of 725,000, and with several isolated communities. Two modes of transmission were found: autosomal dominant SCA segregating in four families, and autosomal recessive SCA segregating in nine families. Within the second category, two distinct clinical types were observed. One exhibited ataxia with additional spinal involvement, including both upper and lower motor neuron affection and sensory disturbances. In some cases there were also ophthalmoplegias, dementia, epilepsy, and Parkinsonian signs. The other type exhibited mostly ataxic signs with little additional spinal involvement, but with dementia, epilepsy, and ophthalmoplegias in some cases, and occasionally hyperkinesia and optic nerve atrophy. The autosomal dominant SCA cases showed a varied spino‐cerebellar symptomatology, but lacked ocular signs and had less mental disturbances than recessive SCA. Additionally, the disease course was more benign in autosomal dominant than in autosomal recessive SCA. The dominant form did not affect life expectancy, whereas autosomal recessive SCA considerably reduced the life span.In four families displaying autosomal dominant SCA, 32 persons were examined: 11 were affected, 10 had unspecific neuropathy (Un), and 11 were unaffected. In six families with autosomal recessive SCA of the spino‐cerebellar type, 53 persons were examined, of whom 11 were affected, 14 had Un, and 28 were unaffected. In two families (the third has been described elsewhere) with autosomal recessive SCA of the cerebellar type, 57 persons were examined: 12 were affected, 19 had Un, and 26 were unaffected. In the diagnosis of Un, a score system was used to record all types of neurological signs. The scores were corrected for effects of age and sex, based on findings in a normal population.The estimated prevalence figures in the region investigated were: 3.2/100,000 for autosomal dominant, 1.8/100,000 for spino‐cerebellar autosomal recessive, and 1.2/100,000 for cerebellar autosomal recessive SCA; the gene frequencies were 3.9.10‐5, 2.5.10‐3, and 4.8.10‐4, respectively. The distribution of Un in SCA families indicated different aetiologies. Ratios in the recessive SCA families were compatible with Un sometimes representing a heterozygous SCA manifestation. The prevalence in dominant SCA families fitted with a hypothesis that Un behaved here as a polygenic trait. Clinical Un differences also supported these contentions. Un polygenes are assumed to be important contributors to the inter‐ and intrafamilial variation of phenotypes in autosomal

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1974.tb02088.x

出版商:Blackwell Publishing Ltd    

年代:1974

数据来源: WILEY

摘要:

The proposita's main characteristics were primary amenorrhea, lack of secondary sexual development, shortness of stature, and shield chest. Her 46 chromosomes included one normal X and an X chromosome with a partially deleted long arm. The abnormal chromosome was late labeling and formed a smaller than normal Barr body. It was almost always more brightly fluorescent than the normal X chromosome in the same cell, especially in the faintly fluorescent region around the centromere. The short arm of the abnormal chromosome was also significantly shorter than that of the normal X chromosome.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1974.tb02089.x

出版商:Blackwell Publishing Ltd    

年代:1974

数据来源: WILEY

摘要:

The study concerns the diagnosis of fetal condition early in pregnancy ‐ within the first trimester. An instrument was designed to allow biopsy of the extraembryonic membranes under visual control. The instrument was tested in 95 pregnant women prior to legal termination of pregnancy. In 28 cases, the biopsies were taken in the outpatient clinic and the patients were observed for 8 d before the pregnancy was terminated. Thirty‐eight percent of the biopsies were successful. Causes of failure were puncture or biopsy of the amniotic membrane, and bleeding which obscured vision. Biopsies were nonetheless obtained in all but four cases, and 60% contained chorionic villi. Target biopsy of chorion as chorionic villi is, however, possible, and the optimal time seems to be in the tenth week of pregnancy. Culture of biopsy material and karyotyping was successful in virtually all instances. When fetal tissue was identified in the abortion products, and cultured after subsequent termination (24 instances) karyotype determination confirmed the finding from biopsy culture cells. No maternal complications followed the procedure. The possibility is discussed that the present approach may be developed for clinical use as an alternative to transabdominal amniocentesis in the 15th. w

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1974.tb02090.x

出版商:Blackwell Publishing Ltd    

年代:1974

数据来源: WILEY

摘要:

The genetic influence on serum lipid and lipoprotein levels was estimated in twins. Twin zygosity was confirmed by analysis of at least 19 genetic marker systems in each twin. Fifty pairs of randomly selected, healthy, normolipidemic twins, 18 to 24 years of age, were studied.Significant differences were found between the inter‐ and intrapair variances for all lipid and lipoprotein parameters in the monozygous twins, and for most values in dizygous twins. The intrapair variances of all lipid and lipoprotein parameters tested were smaller in MZ than DZ twins, and significant differences were found for cholesterol, phospholipids, total lipids, pre‐β‐ and α‐lipoproteins.H statistics, intraclass correlations and the F ratios all point to a high, but somewhat varying degree of genetic influence on the levels of all serum lipid and lipoprotein concentrations investigated, the genetic effect being particulary pronounced for cholesterol and tot

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1974.tb02091.x

出版商:Blackwell Publishing Ltd    

年代:1974

数据来源: WILEY

摘要:

State School, Waltham; the Departments of Pediatrics and Pathology, MassachusettsGeneral Hospital and Harvard Medical School, Boston, Massachusetts, U.S.A.Cytogenetic findings in 500 amniotic fluid cultures are presented. The problems of mosaicism, fragmentation, polyploidy and hypo‐ and hyperdiploidy are discussed. A total of 18 abnormal karyotypes was foun

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1974.tb02092.x

出版商:Blackwell Publishing Ltd    

年代:1974

数据来源: WILEY

摘要:

A case of an XYY baby with Prader syndrome is described. Phenotypic sex reversal could be attributed to the well defined defect in androgen excretion from fetal testes, which is inherited as an autosomal recessive trait. Our case is thought to be the first XYY female, in which the causal defect of sex differentiation could be identified apart from the double Y condition.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1974.tb02093.x

出版商:Blackwell Publishing Ltd    

年代:1974

数据来源: WILEY

摘要:

A patient with some features of Turner's syndrome, but without evidence of masculinization, is reported. Cytogenetic studies showed 45, X/46, X, dic (Y) (q 1:2) mosaicism. The additional cell lines present, 46, X, del (dic Y); 47, X, dic Y, dic Y; 47, X, dic Y, del (dic Y) and 47, X,del (dic Y), del (dic Y, are attributed to instability of the dicentric Y chromosome.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1974.tb02094.x

出版商:Blackwell Publishing Ltd    

年代:1974

数据来源: WILEY