摘要:

The present report describes the cytogenetic findings in 357 cases referred for suspected chromosomal abnormalities because of abnormal clinical features. Chromosomal anomalies were found in 97 (27.2 %) of the cases studied. A significantly high rate of chromosomal abnormalities was found in a population with clinical abnormalities in comparison to an unselected population (0.48–0.55 %

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1980.tb00154.x

出版商:Blackwell Publishing Ltd    

年代:1980

数据来源: WILEY

摘要:

A woman whose karyotype shows an apparently balanced reciprocal translocation, 46,X, t(Xq +; 10q —) is described. She is profoundly mentally retarded and shows minor physical abnormalities with normal sexual development. There is a random pattern of late replication of the normal X and the X involved in the translocation, whereas in most balanced X‐autosome translocations there is preferential inactivation of the norma

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1980.tb00155.x

出版商:Blackwell Publishing Ltd    

年代:1980

数据来源: WILEY

摘要:

The Cohen Syndrome is a rare genetic disorder consisting of obesity, mental retardation, limb abnormalities and characteristic craniofacial appearance. Of the seven previously reported patients, none had any cardio‐vascular involvement. This report describes an affected Jewish female, who, in addition to the usual malformations, has a floppy mitral valv

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1980.tb00156.x

出版商:Blackwell Publishing Ltd    

年代:1980

数据来源: WILEY

摘要:

As a supplement to the recently proposed systematic nomenclature for the genotypes and phenotypes of GM2–gangliosidoses (O'Brien 1978b), it is suggested that guidelines be adopted for the use of eponyms and type designations in connection with this group of sphingolipidoses. The biochemical genetics of the lysosomal β‐hexosaminidase system in man are briefly reviewed, and recommendations are proposed for the use of eponyms and type designations based upon a locus‐oriented fra

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1980.tb00157.x

出版商:Blackwell Publishing Ltd    

年代:1980

数据来源: WILEY

摘要:

Two young adult siblings were diagnosed as having a deficiency of acid β‐galactosidase activity in leukocytes and fibroblasts. The parents had enLyme levels approximately half of the normal level, consistent with this being the primary enzymatic lesion. Sialidase activities measured with natural and synthetic substrates in the patient's skin fibroblast cultures were normal. Hybridization of one of these patient's cells with cells from a patient with Gm1 gangliosidosis, Type 1 did not show complementation of β‐galactosidase activity. However. when the cells from the patient were hybridized with cells from a patient with combined sialidase and β‐galactosidase deficiency, complementation was observed. These two siblings have ataxia, mild intellectual deterioration, slurred speech, mild vertebral changes and little, if any, visceromegaly. They do not have myoclonus, seizures or cherry‐red spots, which are found in most patients with combined sialidase and β‐galactosidase deficiency. These patients are discussed with regard to other patients in the literature called variant or adult Gm1 g

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1980.tb00158.x

出版商:Blackwell Publishing Ltd    

年代:1980

数据来源: WILEY

摘要:

A girl with trisomy‐21/normal mosaicism has been abserved for approximately 10 years. Her appearance is reminiscent of, but not typical for Down's syndrome, and her intellectual abilities are impaired but not to the same severe degree expected in Down's syndrome. These observations are consistent with the belief that, in persons ascertained by clinical resemblance to Down's syndrome, mosaicism with a normal cell line may dilute the typical appearance of Down's syndrome. The cytogenetic studies performed longitudinally demonstrated a significant decrease in the proportion of blood lymphocytes showing the trisornic line. The maximal decrease occurred in the first year of life. A direct preparation from the bone marrow and a fibroblast culture at 2.5 months showed 3 and 4%trisomic cells, respectively, corresponding to the level of trisomic cells from the blood cultures during the second year of lif

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1980.tb00159.x

出版商:Blackwell Publishing Ltd    

年代:1980

数据来源: WILEY

摘要:

The proband in this family has translocation Down's Syndrome 46, XX, t(14;21)(pll;qll), and this translocation was present in other family members. Sex chromosome mosaicism was demonstrated in three generations of the family, providing another example of familial mosaicism. There was also excessive foetal wastage in different family members. It was not possible to assign one common aetiological factor to account for these various abnormalities. Dermatoglyphic studies showed dominant inheritance of finger‐tip arch patterns in one branch of the famil

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1980.tb00160.x

出版商:Blackwell Publishing Ltd    

年代:1980

数据来源: WILEY

摘要:

In the course of a study of the close linkage between the gene locus for the autosomal recessive disease, Congenital Adrenal Hyperplasia (CAH), and the major histocompatibility compIex (MHC), a cytogenetic survey was undertaken. In one family, where a crossover might have occurred between some loci in the MHC complex and the locus for the 21–hydroxylase gene, there was also a crossover between the MHC locus and the centromere of chromosome

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1980.tb00161.x

出版商:Blackwell Publishing Ltd    

年代:1980

数据来源: WILEY

摘要:

The percentage of alpha‐fetoprotein (AFP) not reacting with concanavalin A (con A) was determined by crossed line affino‐immunoelectrophoresis in amniotic fluid from 25 pregnancies with neural tube defects (NTD) and other fetal abnormalities giving rise to elevated AFP levels, and from 128 pregnancies with normal outcome. The percentage of con A non‐reactive AFP is significantly lower in the presence of fetal abnormalities (mean 3.4 %, range: 0.0–6.3, n = 23, compared to the percentage found in normal pregnancies (mean 17.2%, range: 6.6–35.8 %, n = 128). In amniotic fluid samples from normal pregnancies, the percentage of con A non‐reactive AFP in 84 cases with total AFP levels lying within the 95 % reference interval was not significantly different from the percentage found in 44 cases with levels above the 95 % reference interval. The percentage of non‐reactive AFP in fetal serum and cerebrospinal fluid was of the same magnitude as found in amniotic fluids of pregnancies with fetal abnormalities. It is concluded that analysis of the percentage of con A non‐reactive AFP by crossed line affino‐immunoelectrophoresis is a simple, reliable and apparently diagnostic test for NTD and ether abnormalities with leakage of fetal serum or cerebrospinal fluid into the amniotic fluid. The test should therefore be used in all cases with only marginally elevated AFP levels, so false positiv

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1980.tb00162.x

出版商:Blackwell Publishing Ltd    

年代:1980

数据来源: WILEY

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1980.tb00163.x

出版商:Blackwell Publishing Ltd    

年代:1980

数据来源: WILEY