摘要:

A four‐month‐old girl with facial dysmorphism, moderate mental retardation, immune deficiency (decreased IgG and IgA and absence of IgM), centromeric instability of chromosomes 1, 9, 16 and very rarely of chromosome 2, and disposition to formation of multibranched chromosomal figures, is described. The case is the fifth described with such chromosomal and immune abnormalities, which prove the existence of a new syndrome. The authors suggest an autosomal recessive inherita

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb02781.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

The use of Scottish public records to assist in the study of genetic disease is described. Four examples are given of situations in which such data can assist in the management of genetic disease. Some problems and limitations are discussed.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb02782.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

In the present paper two male patients with die Y‐chromosomes are reported with special attention to the identical and peculiar Y‐chromosome rearrangements. Different cell types with variable morphology of the rearranged Y‐chromosomes were found in both pat

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb02783.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

A family presenting with ichthyosis vulgaris, prominent full cheeks, sparse lateral eyebrows and other craniofacial and musculoskeletal defects is described in detail. This constellation of physical findings represents a new syndrome, transmitted in an autosomal dominant fashion. For reasons of simplicity it has been termed the / (ichthyosis), C (cheek),E(eyebrow) syndrome.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb02784.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

A 14‐year‐old boy is reported with bilateral hypoplastic patellae and multiple congenital skeletal anomalies. Since this constellation of bony malformations has not been described previously, we believe this represents a new syndrome most probably of genetic etiol

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb02785.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

Ehlers‐Danlos syndrome (EDS) is clinically and genetically a heterogeneous disorder of connective tissue. Eleven different types of EDS have been documented, several of which have major cardiovascular complications as part of their clinical manifestations. The purpose of this report is to call attention to a form of EDS with minimal external features but severe internal vascular complication

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb02786.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

In 471 amniotic fluid cell cultures, single abnormal cells were found to be randomly distributed. The expected number of pseudomosaicisms for aneuploidy due to randomly distributed cells was 3.9, and the observed number was 4. Expected number of mosaicism for aneuploidy was 0.6, and none was observed.The findings indicated that pseudomosaicisms as well as mosaicisms may be diagnosed from randomly distributed single abnormal cells. The probability of erroneously confirming mosaicism increased with the number of cells analysed in the second culture.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb02787.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

In the present report we describe a mid‐trimester Turner fetus with cystic nuchal hygroma, hydrops fetalis and 90, XX karyotype. This observation suggests that the development of a typical Turner syndrome in humans is apparently caused by a specific autosome/X chromosome ratio (44:1 in 45, X patients or 88:2 in the present fetus) rather than by an X‐chromosome monos

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb02788.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

The first reported Spanish family with autosomal dominant endosteal hyperostosis is presented and two members in two different generations studied. Neurological involvement with sensorineural hearing loss, chronic intracranial hypertension, and mild corticospinal tract abnormalities were found in one case with radiological evidence of progressive bone disease at follow‐up. In addition to mild hydrocephalus, CT‐scan of the head documented a reduction in size of the posterior fossa and encroachment of the foramen magnum. A pattern of selective increase in the bone fraction of serum alkaline phosphatase was also recorded. This family supports the view that severe forms of endosteal hyperostosis are not confined to the autosomal recessive variant, as individuals with the autosomal dominant form may also show relentless progression to neurological involvement during adulth

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb02789.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

A family with three siblings showing different manifestations of Roberts syndrome or SC phocomelia is described. With regard to previously published cases of familial Roberts syndrome and SC phocomelia we conclude that these two syndromes are one and the same genetic entity.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb02790.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY