摘要:

We have detected a previously unrecognized autosomal dominant syndrome characterized by: mental retardation, microcephaly; craniofacial anomalies including cleft lip and anterior cleft palate, hypotelorism and antimongoloid slant; skeletal anomalies, notably of the foot and spine; and chronic constipation. Despite similarities to familial holoprosencephaly, this disorder appears to be a distinct entity.Incomplete penetrance and variable expressivity accompany transmission of the abnormal allele through four generations of a large kindred. Three of the four affected males survived past 20 years of age; the fourth is an infant. All three affected females died very early in infancy.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb00903.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

摘要:

Erythrocyte count, hematocrit, mean corpuscular volume and reticulocyte counts were measured in 59 pairs of monozygotic (MZ) and 69 pairs of dizygotic (DZ) adult, Caucasian male twins. The means of MZ and DZ twins were not significantly different for any of the traits measured. Erythrocyte count and mean corpuscular volume had significant estimates of genetic variance (P<0.05).

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb00904.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

摘要:

The validity of the Hardy‐Weinberg equilibrium for Pi phenotypes was tested in a population of 1,653 randomly selected, healthy blood donors in Lyon, France. A significant departure from the equilibrium was found, with an excess of FF and SS homozygotes and a deficiency of FM heterozygote

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb00905.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

摘要:

Deletion of short arm 9 was found in a 61‐year‐old, mentally retarded male with few of the previously described signs typical of deletion of short arm 9 in children. A survey is given of the nine previously described cases of deletion of short ar

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb00906.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

摘要:

The clinical and cytogenetic data are presented of four children with Bloom's syndrome, who belong to two unrelated Dutch families. The patients showed, in varying degrees, the clinical features most characteristic of the syndrome: stunted growth; telangiectatic facial erythema; sun‐sensitivity of the skin; and decreased immuno‐competence. In one child the skin lesions were only minor and the diagnosis would probably not have been made if her sib had not been recognized as having Bloom's syndrome.The cytogenetic characteristics of the syndrome were present in all patients. Each showed a high number of chromosomal aberrations and numerous sister‐chromatid exchanges per

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb00907.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

摘要:

A 5‐month‐old male child with the clinical stigmata of Turner syndrome, bilateral testes and a non‐mosaic 45, X karyotype in blood and skin tissue is presented. This is the second case reported in the literature of an “XO‐male” with normal externa

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb00908.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

摘要:

A case of inherited Wolf‐Hirschhorn syndrome, 46, XX, del(4)(p13), is described. The father of the affected child was found to have a balanced translocation, t(4;10)(p13;q26

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb00909.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

摘要:

Using ammoniacal silver for differential staining of satellites, associations from 1,668 human metaphases were studied from lymphocyte cultures of 167 normal individuals and were correlated with age and sex. There is a peak in satellite association frequency up to age 20 years in males and to 25 in females. With older ages there is a decline in association frequencies. No associations with four or more chromosomes were found in newborns. Furthermore, association in newborns, as well as in individuals older than 50 years, are significantly low compared to in‐between age groups.Females have a higher frequency of satellite associations than males between the ages of 3 and 50 years. Typically, females have greater multiple associations, while males have more single associations. Randomness or non‐randomness of occurrence of associations fluctuates for different age groups within and between the two se

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb00910.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

摘要:

A mother and daughter carrying a t(5;21)(p13;q22) chromosome were discovered after they had contacted us for genetic counseling. They were concerned because of two cases of Down syndrome in their family. Four of the mother's eight pregnancies had resulted in miscarriages; the chromosome complements of the abortuses is not known. Evidence was found indicating that individuals carrying a structurally altered chromosome 21 have an increased risk of bearing a child with Down syndrome.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb00911.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

摘要:

A baby boy with multiple congenital anomalies and low birth weight has an apparentde novoinsertional translocation into the long arm of his only X chromosome. The origin of the translocated material is not evident and both cytogenetic and X‐linked marker studies do not indicate any loss of genetic material from the X chromosome. His findings are compared with other males who have X‐translocations, none of which appear to be insertional translocati

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb00912.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY