摘要:

The dermatoglyphic patterns of fingertips, palms and soles of 75 male patients with X‐linked mental retardation and fra‐Xq27 and of 28 obligate female heterozygotes were analyzed and compared with the data from 200Sand 200 control individuals. The results show that there is a strong association between the fra‐X‐syndrome and dermatoglyphic peculiarities observed in male patients and also in female heterozygotes. The characteristic dermatoglyphic features of the fra‐X‐syndrome are: increased frequencies of radial loops, whorls and arches on the fingertips, a pronounced transversal course of palmar ridges, lower a‐b RC, absence of c‐triradii on the palms, abnormal palmar and plantar creases, dysplasia of the papillary ridges and low frequencies of true patterns on the soles. Some of these patterns were found in the female carriers of fra‐Xq27 also. The combination of palmar and plantar patterns, expressed by a “log. score‐Index”, provides a high degree of discrimination between the male patients with fra‐X‐syndrome and the control group. A preliminary log. score‐Index was developed also for the female heterozygotes.A “phantom picture” of the dermatoglyphic stigmata is constructed. We suggest that dermatoglyphic examination of the members of families suspected for fra‐Xq27‐syndrome can be useful for predicting this state and for diagnosing

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1986.tb00563.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY

摘要:

Among 89 probands selected for tapeto‐retinal degeneration, 18 (20%) were given the diagnosis of Usher syndrome. Among the relatives of the probands another 10 cases of Usher syndrome were found.The distribution on type diagnoses was: Usher syndrome type I: 14 cases, type II: 10 cases and type III: four cases. The pattern of inheritance was autosomal recessive for 12 families, and the remaining six probands were solitary cases without consanguinity between the parents.There was a high intrafamiliar correlation with respect to hearing function, indicating genetic heterogeneity in Usher syndrome.Obligate heterozygotes did not demonstrate heterozygote manifestation.One man with Usher syndrome type I was psychotic, the remaining 27 did not demonstrate serious psychic disturbances. Atactic gait was not observed, though vestibular response was abolished in three patients with Usher syndrome type I. Three patients with type II and one person with type III had normal vestibular response.The prognosis for visual function was not highly correlated to the type diagnosis or to the age when hemeralopia was first noticed. Visual function was good before 30 years of age and bad in most patients after the age of 5

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1986.tb00564.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY

摘要:

In 22 cases of either adult polycystic liver (PLD) or polycystic kidney (APCD) disease, considered as one dominantly inherited entity, both diseases occurred together only once. Early microscopical cystic lesions that are typical of PLD were found in another case of APCD. In this medicolegal autopsy series the incidence of PLD was 0.05% and that of APCD 0.08%.Cerebral haemorrhage or cerebral aneurysms were found in 50% of APCD cases but in none of the cases with only PLD (p<0.01). Of the cases with PLD, 50% had associated renal cysts and 10% of the cases with APCD had associated liver cysts. The same medicolegal autopsy material yielded a prospective series of 95 male cases, where, however, kidney cysts were normally present in over 50% and liver cysts in about 20% of the cases of similar age. Thus, a part of the association between cystic disease of the liver and kidney may have been based on the common occurrence of cysts in old age.V. Meyenburg's complex was the microscopic alteration associated with cysts in PLD. It was associated as well with liver cysts in APCD suggesting that an intricate relation between PLD and APCD does occur in part of the cases, in this series characterized by large size APCD kidneys.The results indicate that in adults PLD is an entity of its own, expressed in most of the cases independently of APCD.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1986.tb00565.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY

摘要:

A previously derived discriminant function for detecting classical PKU gene carriers without a priori pedigree probability was reevaluated using a large sample size. The test involves fluorometric measurement of fasting phenylalanine and tyrosine plasma levels. Among 75 controls and 45 known carriers, 95% could be classified as to their carrier status with greater than 98% accuracy. The accuracy of our method in classifying our population compared favorably to that of two other discriminant analysis methods requiring a priori probability.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1986.tb00566.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY

摘要:

The genetics of paraoxonase activity is further analysed on the basis of a Danish family material (Eiberg&Mohr 1981), namely a random sample of the investigated two mating types. The starting point is the earlier assumption that the segregation into high and low activity is due to alleles on a single locus with the frequency 0.726 of low genes (Eiberg&Mohr 1981, Nielsen et al. 1986). It is shown that a hypothesis of two “high genes”, hi and h2on the same locus, with allele frequencies 0.117 and 0.157, both high genes being dominant over low genes and h2dominant over hi, may explain the observed pattern of segregation. The hypothesis would imply average activities of genotype 1 hi of 960 μM PNP/1, of lh21385μMPNP/1, of h1h21202μMPNP/1, and of h1, h2and h2h22048μM.PNP/1. It cannot be excluded that there are more than two “high genes”. It is further shown that more than one “low gene” m

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1986.tb00567.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY

摘要:

Two cousins with an unbalanced chromosome translocation (partial trisomy 3p) are described. Both children have a clinically recognizable syndrome of square facies with prominent cheeks, narrow bitemporal regions, psychomotor retardation and congential heart disease. Extended family studies showed one other individual proven to have partial trisomy 3p karyotype, two retarded individuals with congenital heart disease who probably had it, and 14 balanced carriers of the translocation t(l;3)(q43;p21).This report confirms the characteristic clinical appearance of affected individuals and emphasizes the frequency in which congenital heart disease is the presenting feature of partial trisomy 3p. An additional 22 cases of partial 3p trisomy are reviewed.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1986.tb00568.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY

摘要:

A unique family in which half‐brothers have a maternally derived t(X;5) (q13;p15) and similar genital malformations is described. This family provides evidence for a gene required for male genital development located at Xq1

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1986.tb00569.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY

摘要:

Ade novosupernumerary small marker chromosome 15 was observed in a female infant with mental and statomotoric retardation as well as minor facial dysmorphia. The marker chromosome was analysed by ten different staining techniques and 5‐azacytidine treatment of lymphocyte cultures. It is shown that the supernumerary chromosome was derived by a non‐sister chromatid exchange between the two homologous maternal chromosomes 15. The cytogenetical properties of the marker chromosome, the different activity of its two nucleolus organizer regions and the somatic pairing configurations revealed by 5‐azacyidine are rep

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1986.tb00570.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY

摘要:

A patient with a 46, XX, t(5p7p;5q7q) karyotype is described and the review of the literature on whole arm translocations in man is made.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1986.tb00571.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY

摘要:

In a family where the mother carried a fragile site at 17p12, RFLP‐analysis with the X‐specific probe 11.28 showed that the 46, XY/47, XXY mosaicism detected in her Klinefelter son was due to a non‐disjunctional event in paternal meiosis I, followed by a secondary loss of an X‐chromosome by a mitotic non‐disjunction. Thus, an association between the primary meiotic non‐disjunction and the presence of the fragile site could

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1986.tb00572.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY