摘要:

We report seven children with a clinically benign form of primary splenomegaly associated with hematologic evidence of hypersplenism. Five belong to one sibship, the other two are second cousins of each other and of the group of siblings. Splenectomy was performed in five subjects, but pedigree evidence of this autosomal dominant trait tends to indicate that complete clinical resolution occurs normally so that transmitting adults show no splenomegaly or hypersplenism. This appears to be a newly recognized Mende‐lian mutation which is evident (“penetrant”) only in childhood, and which may possibly have pleiotropic effects on eye and CNS develo

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1974.tb01710.x

出版商:Blackwell Publishing Ltd    

年代:1974

数据来源: WILEY

摘要:

Seven individuals having a 47, XYY chromosome were correctly distinguished from 28 individuals drawn from the general population by means of a double blind psychological evaluation (including TAT and Rorschach). The prevalence of XYY men, unscreened for height, was 1 per 1000, and for those screened for height, was 3.5 per 1000. Greater stature and certain psychological characteristics were found among the XYY group. However, there was no evidence of below‐average intelligence or criminalit

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1974.tb01711.x

出版商:Blackwell Publishing Ltd    

年代:1974

数据来源: WILEY

摘要:

The dermatoglyphic discriminants proposed by Penrose&Loesch were used for differentiation between samples of 183 patients with Down's syndrome and 125 controls. The discriminant weightings determined for our Dutch individuals did not deviate much from those determined by Penrose&Loesch for individuals in Great Britain. The estimated percentage of misclassification compares well with the same quantity calculated in the original papers. Moreover, since the method compares well with other known scoring methods, it can be used to advantage in cases of unknown or discrepant symptoms in a patient. The disadvantage of the method, for the confirmation of a clinical diagnosis of Down's syndrome, seems to be that it is rather laborious.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1974.tb01712.x

出版商:Blackwell Publishing Ltd    

年代:1974

数据来源: WILEY

摘要:

Several reported samples of persons with Turner's syndrome are combined, and the sex ratio among their normal sibs calculated. There is a tendency for an excess of males among the sibs of both XO and non‐XO probands, in contrast to an excess of females in a relevant general population and in a selected control sample. This high sex ratio is consistent with the maternal origin of the X chromosomes in the majority of XO probands, and with randomness in the loss of parental sex chromosomes, in the combination of resulting gametes, and in the non‐viability of OY zygo

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1974.tb01713.x

出版商:Blackwell Publishing Ltd    

年代:1974

数据来源: WILEY

摘要:

The distributions of serum complement C3, haptoglobin and transferrin and erythrocyte acid phosphatase, adenylate kinase, 6‐phosphogluconate dehydrogenase and phosphoglucomutase 1 polymorphisms were determined in 171 persons with Down's syndrome and in a control group of 200 normal, healthy persons. In Down's syndrome, unusual phenotypic proportions were observed in the haptoglobin and acid phosphatase systems, while deviations from Hardy‐Weinberg equilibrium were found in the complement C3, acid phosphatase and phosphoglucomutase 1 polymorphisms. The proportion of persons with Down's syndrome of acid phosphatase type A declined linearly with

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1974.tb01714.x

出版商:Blackwell Publishing Ltd    

年代:1974

数据来源: WILEY

摘要:

Two siblings are presented displaying low Girth weight, marked microcephaly, severe mental and growth retardation, and convulsive disorder. Leukocyte and fibroblast cultures showed two cell lines, 46/47,+18, The extra E group chromosome in 30 to 40% of the cells was identified as No. 18 by Q‐banding and G‐banding techniq

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1974.tb01715.x

出版商:Blackwell Publishing Ltd    

年代:1974

数据来源: WILEY

摘要:

An insertional tramlocation 46, XX, ins (17;5) (q21;p14→pter) is described in the mother of a child with “cri du chat” syndrome, 46, XY,5p‐. The phenotypically normal sister of the propositus is also a carrier of the balanced translocation. The mother's parents have a normal Ita

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1974.tb01716.x

出版商:Blackwell Publishing Ltd    

年代:1974

数据来源: WILEY

摘要:

The incidence of congenital dislocation of the hip joint (CDH) in Norway is high. Environmental factors and familial occurrence of CDH have been studied in 1147 probands with neonatal CDH and in 784 probands with late‐diagnosis CDH. The proportion of affected sibs was 6 per cent in neonatal CDH and 8.5 per cent in late‐diagnosis CDH. In 51 families, patients with neonatal CDH had sibs with late‐diagnosis CDH, most of whom had been screened for CDH in the neonatal period. The distribution in families was computable with a polygenic mode of inheritance, and the heritability of CDH was calculated to be 74 per cent.Breech presentation, the most important environmental factor, was observed in 15.7 per cent of the neonatal and in X.3 per cent of the late‐diagnosis cases. A significant seasonal trend in month of birth was found in late‐diagnosis CDH, with a maximum in early October. A higher percentage of birth rank one was found in CDH, but this was mostly due to an association between birth rank one and breech presentation. Probands with familial occurrence were significantly more often severely affected than those with no affected relatives. When several environmental factors were present in the history of a proband, the disorder tended to be more serious, and a familial occurrence of CDH was less likely. Concomitant anomalies were frequently fou

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1974.tb01717.x

出版商:Blackwell Publishing Ltd    

年代:1974

数据来源: WILEY

摘要:

In an optimalised radiochemical procedure for simultaneous measurement of hypoxanthine‐guanine phosphoribosyl transferase (HG‐PRT) and adenine phosphoribosyl transferase (A‐PRT) from individual human hair roots, the HG‐PRTIA‐PRT activity ratio was used as an index for heterozygote detection in the Lesch‐Nyhan syndrome. Hair roots of female carriers of HG‐PRT deficiency could be distinguished from those of normal and mutant individuals. Evidence is presented that temperature at which hair roots are frozen prior to the enzyme assays affects the HG‐PRTIA‐PRT activity ratio The ratio tends to be higher after lower free

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1974.tb01718.x

出版商:Blackwell Publishing Ltd    

年代:1974

数据来源: WILEY

摘要:

A girl with retinoblastoma, mild psychomotor retardation, bifid uvula and clinodactyly of the fifth fingers is described. A chromosome analysis revealed a long arm deletion of a D chromosome. An autoradiographic analysis, as well as G‐ and Q‐banding analyses indicated a 13q‐ chromosome. Measurements of length, surface and relative reflection of the different light and dark bands in the normal and abnormal chromosome 13 pointed to an interstitial deIetion, mainly of band q21 (46, XX, de1(13) (pter→q14:: q22→qter) The chromosome findings and the clinical features of the patient are discussed and compared with other repor

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1974.tb01719.x

出版商:Blackwell Publishing Ltd    

年代:1974

数据来源: WILEY