摘要:

The occurrence of pseudohypoparathyroidism/pseudopseudohypoparathyroidism (PH/PPH) and D brachydactyly (DB) in different persons in the same family is described for the first time. The theory that PH/PPH, E brachydactyly (EB), acrodysostosis (AD) and DB are variable expressions of the same trait or allelic traits is proposed. It is advised that newborn babies in such families are investigated carefully in order to exclude hypocalcemic PH. It is suggested that EB is subdivided into 4 groups (Ei‐E4) according to the degree of symptoms.The proband of this family was a unique case. In addition to normocalcemic PH she also suffered from hemochromatosis, another rare hereditary disease and she had an abnormal chromosome 20, not earlier described. Both findings were supposed to be coincidenta

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1986.tb01909.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY

摘要:

A syndrome characterized by progeroid facies, multiple nevi, mild mental retardation, skin hyperextensibility, bruisability, moderate skin fragility, joint hypermobility principally in digits, is described in two unrelated patients. Electron microscopy of the skin showed some fragmentation of the elastic fibers' fibrous portion and moderate electrodensity in the amorphous portion. Since a practically identical constellation of clinical features was previously reported in three patients, the individualization of a distinct connective tissue disorder, probably autosomal dominant, with variable expressivity is concluded.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1986.tb01910.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY

摘要:

Presented here is an infant displaying trisomy of the region 20ql3.13→qter. This case shares phenotypic features with previously reported trisomy 20q individual

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1986.tb01911.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY

摘要:

The case is reported of a child with the karyotype 46, XY, r(21), who presented with linear growth retardation but who appears, at age 2 years 8 months, to be developing normally mentally. There is a small number of reports of mildly affected cases of r(21), and of some with an apparently completely normal phenotype. We presume a structural and functional cytogenetic heterogeneity underlies the observed phenotypic heterogeneity in the ring 21 spectrum.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1986.tb01912.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY

摘要:

Neurodevelopmental and psychological aspects in a child with 49XYYYY karotype are described. The developmental examination revealed mild mental retardation (I.Q. = 50), disturbances in gross and fine motor development and speech disorders. The child was treated by developmental therapy which improved his abilities for a better social adjustment.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1986.tb01913.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY

摘要:

A mother and son, each showing the characteristic features of the Weill‐Marchesani syndrome, are described. It is suggested that this family provides further evidence for genetic heterogeneity in this conditio

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1986.tb01914.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY

摘要:

An infant boy with asymmetric crying facies, microcephaly, developmental retardation and failure to thrive is reported. His two siblings died in the newborn period because of complex congenital heart defects. The mother and the maternal grandmother have asymmetric crying facies, microcephaly and normal intelligence. A maternal aunt has severe physical and mental retardation, facial asymmetry, microcephaly, and cleft palate. This family allows an expansion of the spectrum of malformations associated with asymmetric crying facies and suggests autosomal dominant inheritance with variable expressivity.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1986.tb01915.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY

摘要:

Culture of chorionic villus cells provides a method of obtaining chromosomes of excellent quality for first trimester prenatal diagnosis. Concern exists that maternal cells present in the biopsy may contaminate the culture and lead to misdiagnosis. This study has confirmed that karyotypes obtained from female villus cultures were non‐maternal by establishing the presence of paternal markers using Q‐ and C‐banding. Male cultures were harvested serially to investigate the possibility of maternal cell overgrowth. Of 82 successful cultures investigated, 37 were male and 45 female and of the males 4 contained a mixture of male and female cells. Thorough dissection of the material is essential if maternal cell contamination is to be mininimised. The use of heteromorphic chromosome markers to establish that fetal cells have grown provides valuable reassu

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1986.tb01916.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY

摘要:

Of 628 clients completing questionnaires six months after genetic counseling, 273 (43.5%) reported that their reproductive plans had been influenced by the counseling session. Of those who said that they were influenced, 144 (52.7%) held the same reproductive plans that they reported before counseling: 41 (15%) were planning more pregnancies, 36 (13.2%) were planning fewer, and 52 (19.1 %) became reproductively uncertain. A similar pattern of stability and change appeared in the reproductive plans of those who reported that they werenotinfluenced by genetic counseling. Stepwise logistic regression indicated that clients who reported that their plans were influenced: (1) came to counseling to get information for making a decision about whether to have a child; (2) discussed this decision in depth with the counselor; and (3) had more education than clients who said that they were not influenced. We found no evidence that counseling was supplanting clients' own personal values. In the discussion, we suggest several reasons why clients of higher socio‐economic status are more likely than others to report that they are influenced, and discuss the ethical implications of these result

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1986.tb01917.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY

摘要:

In this paper we report two clinically recognizable chromosomal syndromes, both resulting from isochromosome 18 formation, i.e. trisomy 18q and tetrasomy 18p. The possible mechanisms of the isochromosome formation are discussed and the literature on subject is reviewed.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1986.tb01918.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY