-
Chapter
Standard Outline for Each Nation (2.1–2.19)
-
Article
The origin and phenotype of XO males
-
Article
Changes in the incidence of Down syndrome in Sweden during 1968–1982
A continuous increase in the incidence of Down syndrome in Sweden was noted during 1979–1981. This increase mainly occurred among children of younger mothers and was more pronounced for hte males than for the ...
-
Article
The 11q;22q translocation: A collaborative study of 20 new cases and analysis of 110 families
Following a previous collaborative study (Fraccaro et al. 1980), 20 new cases of 11q;22q translocation are described. Twelve families were ascertained through an unbalanced carrier of the translocation and eig...
-
Article
Correlation between the number of sex chromosomes and the H-Y antigen titer
H-Y antigen was studied serologically on blood cells and cultured fibroblasts of patients with numerical aberrations of the sex chromosomes. As compared with normal males, patients with the karyotypes 48,XXXY ...
-
Article
The “Cat Eye syndrome”: Dicentric small marker chromosome probably derived from a No. 22 (Tetrasomy 22pter→q11) associated with a characteristic phenotype
Eleven patients with the so-called Cat Eye syndrome are reported including a more detailed description of the original cases reported by Schnid and Fraccaro. All cases had, in addition to a normal karyotype, a...
-
Article
Sex-reversed XY females with campomelic dysplasia are H-Y negative
Three families with infants affected with campomelic dysplasia, a genetically determined mesenchymal disease frequently associated with sex reversal were studied. Two XY famales with ovarian gonadal differenti...
-
Article
The 11q;22q translocation: A European collaborative analysis of 43 cases
Translocation between the long arms of chromosomes 11 and 22 is usually detected in offspring with an unbalanced karyotype following a 3:1 disjunction resulting in “partial trisomy.” Since by the end of 1976 i...
-
Article
Iron malabsorption and hypochromic anemia in a case of Turner's syndrome
Refractory hypochromic anemia was investigated in an adult with Turner's syndrome. Reduced iron absorption, serum iron, and iron incorporation were found in association with increased iron binding capacity and...
-
Article
138: XY females with camptomelic dwarfism – lack of male gonadal differentiation coupled with abnormal cartilage
Camptomelic dwarfism (CD) is a syndrome of multiple characteristic skeletal malformations (including angulated tibiae), dwarfism, tracheomalacia, muscular hypotonia and early death. Both familial and sporadic ...
-
Chapter
Cytogenetic Aspects of Human Male Meiosis
During the first half of the present century human meiotic chromosomes were studied mainly in order to obtain information on the chromosome number of man. Different authors came to different conclusions regard...
-
Article
HL-A Antigens and Heteromorphic Fluorescence Characters of Chromosomes in Prenatal Paternity Investigation
WE report here an investigation for legal abortion in which disputed paternity was resolved after a study of the HL-A antigens and the quinacrine fluorescence pattern of chromosomes in cultured amniotic cells.
-
Article
Presumptive X-Autosome Translocation in a Cow : Preferential Inactivation of the Normal X Chromosome
THE Lyon hypothesis1 was constructed on genetical evidence derived from observations of sex-linked variegation of coat colour in the mouse. Within the framework of this hypothesis, late DNA synthesis and genetic ...
-
Article
Possible Localization of the Genes for the Kidd Blood Group on an Autosome Involved in a Reciprocal Translocation
-
Article
Evidence that the Xg Blood Group Genes are on the Short Arm of the X chromosome
-
Article
Synthesis of Deoxyribonucleic Acid on X-Chromosomes of an XXXXY Male
-
Article
Congenital Malformations in Children of Mothers Aged 42 and Over
IN the heterogeneous group of congenital malformations, correlation with factors such as parental age are of etiological and epidemiological significance. Parental age has also a special relevance to the probl...