摘要:

Six new patients with the Cohen syndrome are reported from Finland and 25 published cases from elsewhere are reviewed. New findings are consanguinity among two pairs of parents, granulocytopenia, and marked ophthalmological changes: decreased visual acuity, hemeralopia, constricted visual fields, chorioretinal dystrophy with bull's‐eye‐like maculae and pigmentary deposits, optic atrophy, and isoelectric electroretinogram. Previously known features of the Cohen syndrome (non‐progressive mental retardation, short stature, microcephaly, peculiar facies, slender hands and feet, floppiness, delayed puberty) are confirmed or revised.The ophthalmological features merit attention in the previous and future suspected cases of the Cohen syndrome. Autosomal recessive inheritance can be taken for gr

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1984.tb00456.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

In an effort to explain the causes of variation in birth weight within and between families, birth weights of 13,970 sons and daughters of monozygotic (MZ) and dizygotic (DZ) twins were analysed. The sample included birth weights of halfsibs and cousins related either through females or males, permitting the distinction between maternal and fetal genetic effects. Models of genetic and environmental variances were fitted to mean squares from analysis of variance. The results indicate that more than 50% of the total variation in birth weight is caused by variation in fetal genes, and that less than 20% is caused by variation in maternal genes. The remaining variance (20–30%) could be explained by random environmental effects. No certain effects were found of family‐specific environment or of interactions between fetal and maternal ge

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1984.tb00457.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

This paper reviews past, present and future social and ethical considerations of screening carriers of autosomal disorders and other heterozygotes. A body of ethical and social guidance has evolved in the 1970's and 1980's for screening. The values of voluntaristic participation and informed consent are high. The goal of programs should be to provide couples, families, and individuals with knowledge respecting their reproductive choices. The dangers are coercive strategies, stigmatization, and careless communication of risk information. It is assumed that the number of autosomal carrier states that are screenable will undoubtedly increase as will states of heterozygosity that cause susceptibility to common diseases. Before the end of the century, something approaching a “biopsy of the human genome” will be a practical reality. To balance the potential for harmful psychological and social effects of so much new genetic knowledge, new efforts must be made to find treatments for progeny affected by recessive disorders. Maternal and paternal screening, prenatal diagnosis and treatment will be increasingly linked in the future. This paper will report on a case of fetal therapy for congenital adrenal hyperplasia as a paradigm for the future. The argument will be made that society ought to put a higher priority on prenatal care and prevention of disorders of prematurity than genetic disorders with a low frequency, lest genetic screening be distorted by unfounded concern about eugen

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1984.tb00458.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

Mitotic chromosome analyses performed on 820 infertile men revealed 60 (7.3%) men with some kind of chromosomal abnormality. Sex chromosomal abnormalities were detected in 28 (3.4%) and autosomal translocations in 9 (1.0%). Pericentric inversions of chromosome 9, with possible adverse effect on reproduction, was found in 23 (2.8%). Chromosome variants comprised a group of 77 (9.3%) subjects. We suggest that men with severe oligozoospermia and azoospermia should be considered for cytogenetical evaluation.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1984.tb00459.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

Seven fetuses at risk of developing a serious inherited skin disorder (epidermolysis bullosa atrophicans generalisata gravis in 4, bullous ichthyosiform erythroderma in 2, and non‐bullous ichthyosiform erythroderma in 1) were subjected to prenatal diagnosis by fetal skin sampling. The conventional “blind” biopsy procedure was used in the first 3 cases; a two‐cannula technique (one cannula for the optic instrument and the other for the biopsy forceps) that permits biopsy of the skin under direct vision, was employed in the remaining 4 cases. With the “blind” technique, 8 to 10 biopsy specimens had to be taken to ensure that enough skin material would be available for the microscopic examination; only one specimen out of every two was found to consist of skin; the remainder comprised fetal membranes, myometrium, or tro‐phoblast. In one case where the “blind” procedure had been used, leakage of amniotic fluid occurred and labor started in the 33rd week. With the two‐cannula technique, the number of biopsy samples could be confined to two or three, and all p

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1984.tb00460.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

We report two cases with ichthyosis vulgaris, hypogenitalism and hypogonadism. So far, little endocrinological information has been available on this association and the exact type of ichthyosis was unknown. Our first patient suffered from very severe hypergonadotropic hypogonadism, whereas the second patient showed normal levels of luteinizing hormone, but slightly elevated follicle stimulating hormone values. In lipoprotein electrophoresis we found fast moving beta‐lipoproteins in the first patient and a normal electrophoretic mobility of pre‐beta and beta‐lipoproteins in the second patient. Correspondingly, steroid sulfatase (STS) testing revealed STS deficiency in the first patient and normal STS activity in the second patient, thus excluding X‐linked recessive ichthyosis. These two different types in the association of ichthyosis with hypogenitalism and hypogonadism could not be discriminated by clinical, morphological and cytogenetic

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1984.tb00461.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

The phenotype of a boy with monosomy of a small segment of chromosome (10) (q24.2→q25.3) is described. In his family a balanced insertion (5;10) is found in three generations. Moreover there are two persons who are trisomic for the same small segment of chromosome 10 for which the boy is monosomi

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1984.tb00462.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

A rare case of chromosome 1p deletion is reported in a mentally retarded male infant with a derived chromosome: 45, XY, ‐1, ‐13, tdic(1;13) (1qter → 1p36.2:13p11.2 → 13qter). Parental chromosomes were normal. Since the patient's 6‐PGD specific activity was in the normal range, it is probable that he retained both 6‐PGD alleles. Consequently, if a dosage affect exists, then the locus for 6‐PGD must be proxi

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1984.tb00463.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

The Schinzel Syndrome was identified in a mother and daughter. This report expands the phenotype associated with this disorder.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1984.tb00464.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

A family is reported in which various skeletal abnormalities have been segregating over three generations. The Great‐grandfather (II) of the consultand had features consistent with Grebe chondrodysplasia. The other members of the family have brachydactyly, radiologically characterised by short first metacarpals and short middle phalanges of the index and little fingers. The possibility of association of familial brachydactyly and Grebe chondrodysplasia is discussed. An attempt has been made to deal with the genetic counselling problem in this particular famil

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1984.tb00465.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY