摘要:

Methods are presented to estimate relative fitness of carriers as a function of fertility, survival, and generation time in pedigrees under incomplete ascertainment. A large sample of diverse chromosomal aberrations reveals significant effects on all three parameters, giving a relative fitness of .769 ± .039. There is no significant shift in segregation frequency. Implications of these results for population dynamics of structural rearrangements are discussed. The following paper applies these methods to specific classes of aberrations

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1975.tb01489.x

出版商:Blackwell Publishing Ltd    

年代:1975

数据来源: WILEY

摘要:

Reproductive fitness was measured in the following seven classes of pedigrees: (1) D/D Robertsonian translocations ascertained through a euploid proband; (2) D/G Robertsonian translocations ascertained through a euploid proband; (3) reciprocal translocations ascertained through a euploid proband; (4) inversions ascertained through a euploid proband; (5) all translocations and inversions ascertained through an aneuploid proband; (6) those ascertained through a proband with a ring, marker, or supernumerary chromosome; (7) those ascertained through a proband with an extreme variant chromosome. For each group reproductive fitness was calculated in two ways. One method was based on live births, fetal and infant deaths and generation time of those individuals carrying a chromosome abnormality or variant by comparison with their first degree relatives who were known to have a normal chromosome constitution. The second method was based on the proportion of sporadic cases obtained from segregation analysis. The results obtained using both methods are presented and discussed.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1975.tb01490.x

出版商:Blackwell Publishing Ltd    

年代:1975

数据来源: WILEY

摘要:

Galactokinase deficient fibroblasts are not distinguishable from galactosemic fibroblasts by a test suggested earlier by Hill&Puck (1973). They can be so distinguished by the test described here, since they are unable to incorporate radioactive galactose into TCA‐insoluble material under normal conditions of incubation while both galactosemic and normal cells incorporate considerable amounts. The importance of this is discussed in relationship to antenatal screenin

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1975.tb01491.x

出版商:Blackwell Publishing Ltd    

年代:1975

数据来源: WILEY

摘要:

The present study of 100 patients (46 of whom were included in a previous study) with suspected or proven coronary heart disease (CHD) confirms that Lp(a) lipoprotein and pre‐β1lipoprotein are closely related, if not identical, and that Lp(a) lipoprotein/pre‐β1lipoprotein occurs more frequently in patients with CHD than in healthy people. Analysis of this lipoprotein component may have predictive value with respect t

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1975.tb01492.x

出版商:Blackwell Publishing Ltd    

年代:1975

数据来源: WILEY

摘要:

The adducted thumbs syndrome is characterized by cleft palate, microcephaly, and dys‐myelination. A fifth case of this syndrome is presented. Several other syndromes which may present with adducted thumbs are reviewed and re‐assessed. The original contributions consist of discussions of (1) the possible pathogenesis of adducted thumbs in the congenital clasped thumb syndrome and in sex‐linked hydrocephalus, (2) the genetic heterogeneity of the clasped thumb syndrome, and (3) the significance of adducted thumbs as a possible marker in sex‐linked hydroc

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1975.tb01493.x

出版商:Blackwell Publishing Ltd    

年代:1975

数据来源: WILEY

摘要:

The clinical, cytogenetic and dermatoglyphic findings in two unrelated cases of trisomy for the short arms of the No. 9 chromosome are described. Different familial translocations were involved in each case.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1975.tb01494.x

出版商:Blackwell Publishing Ltd    

年代:1975

数据来源: WILEY

摘要:

Two patients, a mother and her daughter, are presented who manifest the clinical features of the oro‐facial‐digital syndrome (OFD I), Many of these features are shared with Mohr's syndrome (OFD 11). Confusion arises when a patient presents with features common to both syndromes.The features which are always or sometimes associated with these syndromes are tabulated. The Tables also show which abnormalities are common to both syndromes and to our cases. Additional clinical and radiological features which have not been considered part of these syndromes are described. We present these cases to suggest that these syndromes should be “lumped” together as one syndrome. We propose expanding this syndrome to include ear and renal abnormalities.Our cases follow an X‐linked dominant inheritance pattern and, therefore, do not help determine the genetic controversy of these two

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1975.tb01495.x

出版商:Blackwell Publishing Ltd    

年代:1975

数据来源: WILEY

摘要:

Results are presented of karyotype analysis with autoradiography and Q‐banding of a mentally retarded dwarf. A reciprocal (1p‐;15q+),de‐novotranslocation was obs

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1975.tb01496.x

出版商:Blackwell Publishing Ltd    

年代:1975

数据来源: WILEY

摘要:

The centromeric banding pattern of chromosome 19 exhibited considerable variation. The variants were present in the majority of cells from an individual and consisted of additional dark‐staining areas. There was no abnormal phenotypic effect associated with any variant and it is concluded that these additional dark‐staining areas do not contain any functional ge

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1975.tb01497.x

出版商:Blackwell Publishing Ltd    

年代:1975

数据来源: WILEY