摘要:

Among 75 members of a Danish family, 12 were found with a syndrome not previously described. Clinically, the syndrome consists of low body height and rigid flat feet, with weight‐bearing pain in the feet. Radiologically, the deformation of the feet is a medial synostosis between the talus and the calcaneus combined with ankle joint dysplasia. The cause of the syndrome is most probably an autosomal dominant gene with complete penetrance. No linkage was found of the gene to 18 marker gene

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb00938.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

摘要:

A possibly new mental retardation syndrome is described in a large family. The major features of the syndrome are: short stature, craniofacial dysmorphism and dento‐skeletal abnormalities. The mode of inheritance of this syndrome appears to be autosomal dominant with a variable degree of expressivity.The possible similarity to another autosomally dominant inherited mental retardation syndrome, “the K.B.G. syndrome” as described by Hermann et al. (1975), is disc

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb00939.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

摘要:

Cytogenetic analysis of 10 cases of infectious mononucleosis has revealed increased damage in the form of chromosome breakage and aberrations typical of viral infection, but in addition a few cells were consistently found to harbour a deleted number 22, similar to the Philadelphia chromosome. The presence of a plasma inhibitor of lymphocyte response to the mitogen phytohaemagglutinin is suggested. This inhibitor appears to have a reversible action on the patient's own lymphocytes but no inhibitory effect on control lymphocytes.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb00940.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

摘要:

A clinical diagnosis of the Cat‐Eye Syndrome (CES) was made in a female child with anal stenosis, congenital heart disease, bilateral preauricular skin tags and coloboma of the right fundus. The karyotype was 46XX/47XX, +mar. Q‐banding revealed the marker chromosome to be metacentric and comparable in size to that of a G‐group chromosome. One arm had brightly fluorescent satellites while the other exhibited a fluorescent polymorphism similar to the short arm of a D‐ or G‐group chromosome. Chromosome analysis from blood cultures obtained from parents and three sibs did not demonstrate the presence of the marker chromosome. Comparison of the fluorescent polymorphisms revealed that the satellites on the marker were comparable in size and brightness to those of the maternal chromosome 22. C‐banding demonstrated the marker to be dicentric. While there has been much speculation on the origin of the Cat‐Eye Chromosome (CEC) based on clinical features in common with the trisomy 22 syndrome, autoradiographic studies and the general appearance of the marker, this case provides definitive evidence for the involvement of chromosome 22 in the origin of the marker chromosome. This chromosome is interpreted as the product of a Robertsonian translocation between the short arm and satellites of chromosome 22 and the short arm of another D‐ or G‐group chromosome, most likely 13. Thus, the karyotype of the patient is 46XX/47XX, t(?13;22) (?13pter→13q11::22q11→22pter). Reinvestigation of patients with CES utilizing heritable polymorphisms may better elucidate the specific nature of the marker, and further delineate a possible basis for the heteroge

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb00941.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

摘要:

The C‐bands of two cases of familial, genetically inactive, accessory small chromosomes and five cases of genetically active chromosomes were examined. Inactive chromosomes consist of constitutive heterochromatin and satellites only. In active chromosomes, euchromatin was present. These chromosomes contained two, one or no C‐bands, although all these chromosomes were morphologically monocentric. C‐banding is more informative than other banding methods for this category of chromo

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb00942.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

摘要:

A sibship consisting of three siblings, one male and two females with unrelated parents, showed a clinical syndrome including: infantile spasms with hypsarrhythmia, microcephaly, severe mental retardation and spastic quadriplegia. The pneumoencephalogram performed in two sibs showed agenesis of the corpus callosum and aqueductal stenosis with tri‐ventricular dilatation. The disorder did not show a progressive course with deterioration of mental and neurologic functions. No biochemical or cytogenetic defect could be identified. Complement fixation for cytomegalovirus was negative. This syndrome complex is probably inherited as an autosomal recessive trait. The clinical and the genetic aspects of the syndrome are discusse

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb00943.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

摘要:

Cultured amniotic fluid cells had a higher level of α‐L‐fucosidase than skin fibroblasts. The early passages of amniotic fluid cells had a higher activity than later passages, whilst skin fibroblast activity was unrelated to passage. For both cell types α‐L‐fucosidase activity fell on subculture, rising again at c

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb00944.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

摘要:

In three generations of the proband's patrilineal relatives, 14 subjects were found to be carriers of a “shift” insertional chromosome No. 1 (46, XX or XY, ins(1)(p32q25q31)). The proband and three female relatives, who were mild to moderate mental retardates with minor congenital anomalies, were trisomic for the insertional segment, (1)q25q31. Another subject, who was a markedly immature female abortus with congenital abnormalities, was found to be monosomic for this same chromosomal segment. The cytogenetic evidence suggests that each of these unbalanced recombinant progeny was the result of a single crossing over in the noninsertional loop of a paternal pachytene bivalent of the balanced insertional chromosome No

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb00945.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb00946.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb00947.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY