Showing papers in "Cytogenetic and Genome Research in 1963"
TL;DR: Autoradiographic studies of human chromosomes labeled with tritiated thymidine have been carried out on cells from 15 individuals with normal and abnormal karyotypes.
Abstract: Autoradiographic studies of human chromosomes labeled with tritiated thymidine have been carried out on cells from 15 individuals with normal and abnormal karyotypes. The labeling method that was appl
357 citations
TL;DR: By culturing heparinized whole blood, satisfactory chromosome preparations have been obtained easily and efficiently from blood samples as small as 0.05 ml, which is particularly useful in those situations where separation of the leukocytes from other blood cells is difficult.
Abstract: By culturing heparinized whole blood, satisfactory chromosome preparations have been obtained easily and efficiently from blood samples as small as 0.05 ml. This technique eliminates any special treatment of the blood prior to initiating culture and minimizes the loss of leukocytes from the sample. It is particularly useful in those situations where separation of the leukocytes from other blood cells is difficult. Chromosomes from humans and deer mice have been studied using this technique.
345 citations
TL;DR: Both sexes of Microtus oregoni are gonosomic mosaics; the male with the OY/XY constitution, the female the XX/XO, and the diploid chromosome number of 17.
Abstract: Both sexes of Microtus oregoni are gonosomic mosaics; the male with the OY/XY constitution, the female the XX/XO The diploid chromosome number of 17 originally reported by Matthey
120 citations
TL;DR: The testes of three marmoset monkeys in whom a percentage of marrow cells was found to be derived from a female co-twin were studied and some XX mitoses of presumed spermatogonial o were found.
Abstract: The testes of three marmoset monkeys in whom a percentage of marrow cells was found to be derived from a female co-twin were studied. In two of the animals some XX mitoses of presumed spermatogonial o
82 citations
TL;DR: Flattened metaphase figures were obtained by squashing or air-drying cells from human leucocyte cultures that had been treated with colchicine and hypotonic sodium citrate prior to fixation to find the Y chromosome at the periphery of the figure more often than chance expectation.
Abstract: Flattened metaphase figures were obtained by squashing or air-drying cells from human leucocyte cultures that had been treated with colchicine and hypotonic sodium citrate prior to fixation. In such metaphase figures the Y chromosome was at the periphery of the figure more often than chance expectation and more often than the chromosome pairs 1, 2, or 16 or the chromosome groups 13–15, 17–18, 19–20, or 21–22. The Y chromosome was further from the center of circular metaphase figures than the mean value of all the chromosomes or the chromosome pairs 1, 2, or 3 or the chromosome groups 4–5, 6–12+X, 19–20 or 21–22.
72 citations
TL;DR: Findings support the suggestion that the African great apes (Gorilla and Pan) are more closely related to man than the Asiatic apes (Pongo and Hylobates) and it can be further suggested that the gibbons should be classified in a separate family placed perhaps either in the Cercopithecoidea or Hominoidea.
Abstract: Chromosome counts and karyotype data are presented for three species and two subspecies of the Hominoidea and two species of gibbon (Hylobates). The results are compared with the human chromosome set. Pongo pygmaeus (the orangutan), Gorilla gorilla gorilla and Gorilla gorilla beringei (the lowland and mountain gorillas); Pan troglodytes troglodytes and Pan troglodytes paniscus (the northern and pygmy chimpanzees) all have 48 chromosomes while man (Homo sapiens) has 46. The karyotypes differ most widely in the relative number of long acrocentric and metacentric chromosomes. Hylobates lar (Lar gibbon) and Hylobates moloch (Sunda Island gibbon) have 44 chromosomes all of which are metacentric. These findings support the suggestion that the African great apes (Gorilla and Pan) are more closely related to man than the Asiatic apes (Pongo and Hylobates). It can be further suggested on the grounds of karyotype morphology that the gibbons (Hylobates and Symphalangus) should be classified in a separate family placed perhaps either in the Cercopithecoidea or Hominoidea.
69 citations
TL;DR: Cytological studies of a fully-grown Rhode Island Red chicken with ambiguous sexual characteristics revealed a triploid chromosome constitution with two Zs (3A-ZZ), which was like an ovotestis with a sharply defined cortex and medulla.
Abstract: Cytological studies of a fully-grown Rhode Island Red chicken (Gallus domesticus) with ambiguous sexual characteristics revealed a triploid chromosome constitution with two Zs (3A-ZZ) While this bird had the left oviduct and right rudimentary gonad of a normal hen, the left gonad was like an ovotestis with a sharply defined cortex and medulla In the cortex were embryonic ovigerous cords containing oocytes in first meiotic prophase; those oocytes which had reached dictyotene and formed primordial follicles were degenerative In the medulla were well-developed seminiferous tubules, a few of which contained sperm heads, although in most spermatocytes, meiosis had not proceeded very far No diploid cells were found in squash preparations of spleen, bone marrow, or gonad; both somatic cells and germ cells were triploid
66 citations
TL;DR: Two collections of XY-containing karyotypes were screened to obtain every karyotype in which the Y chromosome was distinguishable from the other small acrocentric chromosomes.
Abstract: Two collections of XY-containing karyotypes were screened to obtain every karyotype in which the Y chromosome was distinguishable from the other small acrocentric chromosomes. The metaphase figures co
62 citations
TL;DR: Chromosome counts and karyotype data are presented for five primates Tupaiaglis (Common tree shrew) has 62 chromosomes, 12 metacentic and 48 acrocentric autosomes, a metacentric X.
Abstract: Chromosome counts and karyotype data are presented for five primates Tupaiaglis (Common tree shrew) has 62 chromosomes, 12 metacentric and 48 acrocentric autosomes, a metacentric X
58 citations
57 citations
TL;DR: A boy now aged two years has a number of congenital defects, including mental deficiency, cerebral atrophy, spastic tetraplegia, low-set, malformed ears, dental abnormalities and malformations of the body.
Abstract: A boy now aged two years has a number of congenital defects, including mental deficiency, cerebral atrophy, spastic tetraplegia, low-set, malformed ears, dental abnormalities and malformations of the
TL;DR: Although SN produced significantly fewer breaks than expected in chromosomes No. 1 and No. 3, these breaks were randomly distributed along its length, and the telomere regions of all chromosomes and the short arm of chromosome No. 2 appeared to be relatively resistant to the action of SN.
Abstract: The distribution of chromosome breaks induced by streptonigrin (SN) and X-ray in chromosomes Nos. 1, 2, and 3 of cultured human leukocytes was investigated. In all chromosomes tested, the breaks caused by X-ray were randomly distributed both among and within the chromosomes in proportion to their relative lengths. SN, however, produced significant non-random distributions of breaks in chromosomes No. 1 and No. 2. The pericentric regions of chromosomes No. 1 and No. 2, as well as the secondary constriction area in the long arm of No. 1, seemed highly susceptible to breakage. Although SN produced significantly fewer breaks than expected in chromosome No. 3, these breaks were randomly distributed along its length. The telomere regions of all chromosomes and the short arm of chromosome No. 2 appeared to be relatively resistant to the action of SN.
TL;DR: A family showing transmission of a D/D type translocation of Down’s syndrome (Mongolism) with possible association between non-disjunction and the translocation is reported.
Abstract: A family showing transmission of a D/D type translocation is reported. The chromosomes involved are probably Nos. 13 and 15 (Denver). Attempts to localize a number of marker genes in relation to the centromere of the translocated chromosome were unsuccessful. The propositus in this family was a case of regular (21-trisomy) Down’s syndrome (Mongolism). The possible association between non-disjunction and the translocation is discussed both in relation to the present family and others in the literature.
TL;DR: A 21-month-old boy with multiple congenital anomalies was found to have 49 chromosomes with an XXXXY sex chromosome constitution and was mentally retarded with skeletal abnormalities, hypertelorism, and Down's syndrome.
Abstract: A 21-month-old boy with multiple congenital anomalies was found to have 49 chromosomes with an XXXXY sex chromosome constitution. He was mentally retarded with skeletal abnormalities, hypertelorism, m
TL;DR: Blood grouping of a pair of twin sisters rendered it probable that they are monozygotic twins, but one was severely mentally retarded and had a number of signs of Turner's syndrome.
Abstract: Blood grouping of a pair of twin sisters rendered it probable that they are monozygotic twins. One was severely mentally retarded and had a number of signs of Turner’s syndrome. This twin later died.
TL;DR: A satellited submetacentric chromosome, replacing one of the acrocentric members of the 13–15 group, was found in an apparently normal human female and her father; their karyotypes were otherwise norm.
Abstract: A satellited submetacentric chromosome, replacing one of the acrocentric members of the 13–15 group, was found in an apparently normal human female and her father; their karyotypes were otherwise norm
TL;DR: It was postulated that an apparently enlarged satellite region is compatible with normal development, and such an abnormality does not necessarily imply an association with developmental disorder in the offspring of carrier subjects.
Abstract: In the family described here, the grandmother, father, and 3 of his 9 children had an apparently abnormal chromosome of group 21–22. The abnormality was similar in morphology in all the affected subjects and was found in metaphases from cultures of leukocytes, and skin and bone marrow. The short arm of the abnormal chromosome seemed longer than normal; it was not possible to ascertain whether the satellite itself or the short arm, or both, were enlarged. Of the 5 subjects affected, 4 were clinically normal. The fifth, a girl, had severe abnormalities of the central nervous system. One of her brothers, who was cytogenetically normal, had a similar syndrome of unknown origin. From these data, and from those published by others, it was postulated that an apparently enlarged satellite region is compatible with normal development. Such an abnormality does not necessarily imply an association with developmental disorder in the offspring of carrier subjects.
TL;DR: Studies were made of the somatic chromosome constitutions of a group of 14 mongoloids, including two who were sibs, together with the available members of their immediate families, and in eight cases the constitutions were abnormal.
Abstract: Studies were made of the somatic chromosome constitutions of a group of 14 mongoloids, including two who were sibs, together with the available members of their immediate families. In eight cases the
TL;DR: The present study shows that M. minutoides (Cape Province) and M. bellus (Tanganika) have 36 and 30 chromosomes respectively and that the existence of at least two polymorphic systems and of different chromosome complements found in the forms A, B and C seems to be linked with very active processes of transformation and partially explains the difficulties met by systematists in the study of pigmy-mice.
Abstract: 1) In a previous paper published in 1963, the author showed that in a population of Mus minutoides musculoides found in Bangui, Republic of Central Africa, there were individuals with 30, 31, 32, 33 and 34 chromosomes forming a polymorphic Robertsonian system. The present study shows that M. m. minutoides (Cape Province) and M. m. bellus (Tanganika) have 36 and 30 chromosomes respectively. The subspecies names are provisional since the difference in the chromosome complements of three forms is so great that interbreeding appears to be impossible even though they cannot be distinguished according to the methods of typological taxonomy. From the cytological standpoint we have three different species, respectively designated by the letters A (M. m. musculoides), B (M. m. bellus) and C (M. m. minutoides). Group bujo-triton: Three males of M. triton (Tanganika) were analysed and again found to form a polymorphic Robertsonian system with 20, 21 and 22 chromosomes. Two females have 21 chromosomes but their chromosome constitution does not agree with those of the males. Here we are dealing with another polymorphic system whose origin implicates complicated and numerous translocations. The sex chromosomes of M. m. minutoides are of the same type as those of M. musculus. In M. m. bellus they are like those of M. m. musculoides where it is probable that a translocation of both sex chromosomes onto a pair of autosomes has occurred (Matthey, 1957, 1958, 1963). The X of M. triton is big and sub-metacentric, the Y acrocentric and relatively small. he existence of at least two polymorphic systems (M. minutoides and M. triton) and of different chromosome complements found in the forms A, B and C seems to be linked with very active processes of transformation and partially explains the difficulties met by systematists in the study of pigmy-mice.
TL;DR: A case of a chromatin positive, mentally deficient 51 year old male who is clinically an example of Klinefelter’s syndrome and has a sex chromosome constitution of XXYY is described and possible aetiology of the chromosome, biochemical and x-ray abnormalities are discussed.
Abstract: A case of a chromatin positive, mentally deficient 51 year old male who is clinically an example of Klinefelter’s syndrome and has a sex chromosome constitution of XXYY is described. He has some of the features of the four cases previously described by Muldal et al. (1962), Carr et al. (1961), Ellis et al. (1961) and Vague et al. (1961), but also has abnormalities of the serum mucoproteins and the urine chondroitin sulphate levels and very prominent frontal sinuses. The possible aetiology of the chromosome, biochemical and x-ray abnormalities are discussed.
TL;DR: Human peripheral leukocyte cultures 66 hours old have been irradiated with X rays and fixed 6 hours later, and the cells were scored for chromosomal aberrations.
Abstract: Human peripheral leukocyte cultures 66 hours old have been irradiated with X rays and fixed 6 hours later. The cells were scored for chromosomal aberrations. The aberrations seen were mainly of the chromatid type, and included all of the expected types. The average coefficient of breakage production for four experiments was 0.0031, or virtually the same as that found earlier (Bender and Gooch, 1962a) for chromosome-type aberrations induced in the human leukocyte system.
TL;DR: The presence of Barr bodies was investigated in cells of a fibroblast culture, which consisted mainly of diploid cells with two X-chromosomes and triploids cells with three X- Chromosomes in approximate form.
Abstract: The presence of Barr bodies was investigated in cells of a fibroblast culture, which consisted mainly of diploid cells with two X-chromosomes and triploid cells with three X-chromosomes in approximate
TL;DR: A dense particle, the size of sex chromatin, is detected in cultured human cells both in the living state in phase contrast and after fixation and Feulgen or thionin staining.
Abstract: Cultured human cells from 3 females and 1 male were studied both in the living state in phase contrast and after fixation and Feulgen or thionin staining. A dense particle, the size of sex chromatin,
TL;DR: The incidence of drumsticks and of sessile nodules as well as the lobe counts of the neutrophil nuclei have been studied in three patients with XXX and three patientsWith XXXY chromosomes.
Abstract: The incidence of drumsticks and of sessile nodules as well as the lobe counts of the neutrophil nuclei have been studied in three patients with XXX and three patients with XXXY chromosomes. Three pati
TL;DR: A 48/46 chromosome mosaicism in a mongol born to a young mother is reported, suggested that this mosaicism resulted from concurrent non-disjunction of a number 21 and transverse division of the centromere of a second number 21 during early cleavage in a zygote, or cell line, with 47 chromosomes and trisomic for chromosome number 21.
Abstract: Chromosome abnormality associated with the clinical syndrome of mongolism can usually be attributed to primary non-disjunction during gametogenesis. Nevertheless, a variety of chromosome abnormalities not attributable to primary non-disjunction during gametogenesis have been described, usually in mongols born to young mothers. The authors of this paper report a 48/46 chromosome mosaicism in a mongol born to a young mother. The cell line with 48 chromosomes has five chromosomes of the 21–22 group (Denver system) and a centric fragment. The cell line with 46 chromosomes has an extra chromosome with the morphology of the 19–20 group and only three chromosomes of the 21–22 group. It is suggested that this mosaicism resulted from concurrent non-disjunction of a number 21 and transverse division of the centromere of a second number 21 during early cleavage in a zygote, or cell line, with 47 chromosomes and trisomic for chromosome number 21.
TL;DR: A main karyotype of 48/XXYY was found in a mentally defective male patient with clinical signs of Klinefelter’s syndrome, and the interpretation of the extra chromosome as a Y seems most likely.
Abstract: A main karyotype of 48/XXYY was found in a mentally defective male patient with clinical signs of Klinefelter’s syndrome. 3.4% of the cells were XXY, thetefore the patient is thought to be an XXYY/XXY mosaic. The interpretation of the extra chromosome as a Y seems most likely, but some other possibilities are also discussed.
TL;DR: Fluctuations in the frequency of sex appendages in the polymorpho-nuclear neutrophil leucocytes were studied in 10 women at different phases of the menstrual cycle.
Abstract: Fluctuations in the frequency of sex appendages in the polymorpho-nuclear neutrophil leucocytes were studied in 10 women at different phases of the menstrual cycle. These fluctuations, which are stati