摘要:

Clinical and genetic findings are presented in 18 patients, from 7 pedigrees with different types of spinal muscular atrophy (SMA). The SMA diagnosis was based on EMG and muscle biopsy findings. All 7 pedigrees show an unusual genetic pattern, not consistent with simple autosomal recessive inheritance. Furthermore, in 6 of the 7 pedigrees different types of SMA were present within each pedigree. Our findings can be explained by an extension of a multiple alleles hypothesis originally described by Becker in 1964.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1986.tb00586.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY

摘要:

Growth retardation is a relatively consistent feature of Noonan syndrome but a standardized growth curve for height has never been calculated. Analysis of retrospective growth data on 112 patients with Noonan syndrome has permitted the establishment of preliminary reference growth standards for height for males and females. The results confirm the clinical impression that short stature among this group of patients occurs uniformly and is independent of chronological age. Various factors which may modify this are considered.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1986.tb00587.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY

摘要:

Four cases of duplication of a segment of 1 lp have been reported in patients with Beckwith‐Wiedemann syndrome (Waziri et al. 1983, Turleau et al. 1984). We describe a patient with Beckwith‐Wiedemann syndrome who has a deletion of chromosome 11 (p11p13) and suggest involvement of this chromosomal region in both the duplicated and deleted states such as occurs in Prader‐Willi syn

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1986.tb00588.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY

摘要:

Studying families of schizophrenic patients, we observed that the risk of developing the overt form of the illness could be enhanced by some factors. Among these various factors we focused our attention on a biological variable, namely the presence or the absence of particular HLA antigens: partitioning our schizophrenic patients according to their HLA structure (i.e. those with HLA‐A1 or CRAG‐A1 antigens and those with HLA‐non‐CRAG‐Al antigens, respectively), revealed different illness distribution in the two groups. From a genetic point of view, this finding suggests the presence of heterogeneity in the hypothetical liability system related to schizophrenia and we evaluated the heterogeneity hypothesis by applying alternative genetic models to our data, trying to detect more biologically homogeneous subgroups of th

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1986.tb00589.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY

摘要:

In an attempt to identify biochemical components of the genetic predisposition to neural tube defects (NTDs), levels of folate, cobalamin, apo‐transcobalamins I and II and a‐fetoprotein were studied in midtrimester amniotic fluid from 24 pregnant women who had previously had a child with NTD. The control group consisted of 76 mothers, subjected to amniocentesis for reasons other than risk of NTD in offspring. Only pregnancies with normal outcome were included. No differences were found between groups for levels of folate, cobalamin or a‐fetoprotein. Folate intake or metabolism did not appear to differ between groups. In contrast, the level of apo‐transcobalamin I was doubled and the level of apo‐transcobalamin II tripled in amniotic fluid from women who had had a child with NTD compared with the control group. Since the variation in apo‐transcobalamin II in adults is to a high degree genetically determined, the present results may suggest that the genetic predisposition to NTD is associated with variation in this protein. Further studies are needed to substantiate or reject this

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1986.tb00590.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY

摘要:

Dermatoglyphic findings were compared in 42 patients (32 females, 10 males) with Congenital Adrenal Hyperplasia (CAH) and 110 normal controls (70 females, 40 males). In CAH males, an excess of whorls (p<0.001), an increased total finger ridge count (p<0.05), and an increased frequency of patterns in the fourth interdigital area (p<0.025) was found. A main line A terminating high in the hypothenar area (p<0.05), and a missing c‐triradius or an abortive main line C (p<0.05) was observed in CAH females. Both sexes displayed an increase in the frequency of small radially directed hypothenar patterns (p<0.05) and Sydney lines (p<0.01

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1986.tb00591.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY

摘要:

We report a new case of Johanson‐Blizzard syndrome. The clinical findings with special reference to the dentition are discussed, and the literature is reviewed. The reported case underlines the heterogeneity of ectodermal dysplasias mentioned by Freire‐Maia (19

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1986.tb00592.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY

摘要:

A case of chronic granulomatous disease (CGD) in a 32‐year‐old female with two episodes of opportunistic infections is described. At the age of 29 the patient was suspected to be a carrier of X‐linked CGD on the basis of discoid lupus erythematosus‐like skin lesions. No respiratory burst activity, as measured by phorbol myristate acetate stimulated superoxide production, was observed in isolated neutrophils of the patient. Membrane‐rich fractions elicited no superoxide production in the presence of NADPH. The neutrophil content of cytochrome b_245 was within normal range. Family investigations revealed neither cellular abnormalities nor any history of skin diseases or opportunistic infections in first degree relatives. The parents of the patient were first cousins. On the basis of family history and the in‐vitro assessment of neutrophil function, the patient is believed to have autosomal recessive CGD. The presented case illustrates that lupus erythematosus‐like skin lesions are not restricted to female carriers of X‐linked CGD, but may also be found in the autosomal recessive type

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1986.tb00593.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY

摘要:

The inheritance of a deficient ^‐aminolevulinic acid dehydrase (ALA‐D; synonym: porphobilinogen synthase; EC 4.2.1.24) was studied in blood samples of two families over three generations. The propositus in each family was a young male acute hepatic porphyria patient with an almost complete ALA‐D deficiency in the homozygous state (ALA‐D activity<2% of controls). Heterozygotes are clinically non‐affected (mean ALA‐D 36% of controls). The mode of transmission could be traced by enzyme activity and electrophoretic polymorphism studies. Heterozygotes are detected by the demonstration of enzyme activity in the gel. The notation D was used for the gene expressing the defective enzyme. The “phenotype” D‐l was observed in six, the “phenotype” D‐2 in three of all heterozygotes studied. These results are compatible with a single normal allele in heterozygotes responsible for enzyme activity. Quantitative assays and the segregation pattern in both families suggest a 3‐allele‐system for the inhe

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1986.tb00594.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY

摘要:

The assessment of bone age in eleven prepuberal patients with XY‐female syndrome shows that skeletal maturation in these patients follow a male pattern. This supports the concept of a factor on the Y chromosome regulating skeletal maturation in the first ten years of life. Tall stature does not seem to be a feature of this syndrome in childhoo

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1986.tb00595.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY