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abnormal sex chromosome complemertts. Lancet, i, 863-865. duplication
(1963)
Autoradiographic studies of X
C. Gilbert, S. Muldal, L. Lajtha, J. Rowley (1962)
Time-Sequence of Human Chromosome DuplicationNature, 195
(1963)
Oonedel dysgenesis due to moseicism of an X chromo
A. Morishima, M. Grumbach, J. Taylor (1962)
Asynchronous duplication of human chromosomes and the origin of sex chromatin.Proceedings of the National Academy of Sciences of the United States of America, 48
(1963)
Asynchromy of DNA synthesis in chromosomes of human diploid cells
J. German (1964)
THE PATTERN OF DNA SYNTHESIS IN THE CHROMOSOMES OF HUMAN BLOOD CELLSThe Journal of Cell Biology, 20
L. Atkins, J. Boeoek, K. Gustavson, O. Hansson, M. Hjelm (1963)
A CASE OF XXXXY SEX CHROMOSOME ANOMALY WITH AUTORADIOGRAPHIC STUDIES.Cytogenetics, 2
Rowley Rowley, Muldal Muldal, Lindsten Lindsten, Gilbert Gilbert (1964)
H 3 ‐thymidine uptake by a ring X chronlosome in a human femaleProc. Nat. Acad. Sci., Wash., 51
(1963)
The pattern of X chromosome deoxyribonucleic acid synthesis in two wonien with GILBERT
D. Hsia (1964)
The nature and origin of X chromosome aberrations in Turner's syndromeMetabolism-clinical and Experimental, 13
(1961)
Association between congenital heart inelforCONEN
(1961)
Chromosornal mosaicism in a case of Klinefelter's syndrome associated with DE
(1963)
Oonedel dysgenesis due to moseicism of an X chromo--me fr-ent
(1964)
A new mosaic
Grumbach Grumbach, Morishima Morishima, Taylor Taylor (1963)
Human sex chromosome abnormalities in relation to DNA replication and heterochromatinizationProc. Nat. Acad. Sci., Wash., 49
(1900)
Is there ‘metabolic
short arm X) and a further XO/XY mosaic. Lancet, ii, 1276. thalassemia
J. Rowley, S. Muldal, J. Lindsten, C. Gilbert (1964)
H3-THYMIDINE UPTAKE BY A RING X CHROMOSOME IN A HUMAN FEMALE.Proceedings of the National Academy of Sciences of the United States of America, 51
P. Conen, B. Erkman (1963)
TWO "NEW" SEX-CHROMOSOME MOSAICS: XO-XX, XX-XX (DELETION OF SHORT ARM X) AND A FURTHER XO-XY MOSAIC.Lancet, 2 7320
PatriciaA. Jacobs, D. Harnden, W. Brown, J. Goldstein, H. Close, T. Macgregor, N. Maclean, J. Strong (1960)
Abnormalities involving the X chromosome in women.Lancet, 1 7136
J. Grouchy, M. Lamy, H. Yaneva, Y. Salomon, A. Netter (1961)
FURTHER ABNORMALITIES OF THE X CHROMOSOME IN PRIMARY AMENORRHŒA OR IN SEVERE OLIGOMENORRHŒAThe Lancet, 278
Atkins Atkins, Santesson Santesson (1964)
The pattern of DNA synthesis in the chromosomes of human cells containing an isochromosome for the long arm of an X chromosomeHereditas, 51
(1962)
Time-sequence of human chromosonie
M. Crawfurd (1961)
Chromosomal mosaicism in a case of Klinefelter's syndrome associated with thalassaemiaAnnals of Human Genetics, 25
P. Moorhead, V. Defendi (1963)
ASYNCHRONY OF DNA SYNTHESIS IN CHROMOSOMES OF HUMAN DIPLOID CELLSThe Journal of Cell Biology, 16
J. Valencia, C. Sonnenschein, G. Bur, C. Delozzio (1964)
A NEW TYPE OF CHROMOSOME MOSAICISM RELATED TO THE KLINEFELTER SYNDROME.Lancet, 1 7325
D. London, N. Kemp, R. Ellis, U. Mittwoch (1964)
TURNER'S SYNDROME WITH SECONDARY AMENORRHOEA AND SEX CHROMOSOME MOSAICISM.Acta endocrinologica, 46
(1962)
Recognition of transformed small lymphocytes by combined chroI~OWLEY
J. Lindsten, M. Fraccaro, D. Ikkos, K. Kaijser, H. Klinger, R. Luft (1963)
Presumptive isochromosomes for the long arm of X in man. Analysis of five familiesAnnals of Human Genetics, 26
P. Jacobs, K. Buckton, MargaretJ. King, D. Harnden, W. Brown, J. McBride, T. Macgregor, N. Maclean (1961)
Cytogenetic studies in primary amenorrhoea.Lancet, 1 7188
F. Giannelli (1963)
The pattern of X-chromosome deoxy-ribonucleic acid synthesis in two women with abnormal sex-chromosome complements.Lancet, 1 7286
(1963)
The pattern of X chromosome deoxyribonucleic acid synthesis in two wonien with
N. Maclean, D. Harnden, W. Brown, J. Bond, D. Mantle (1964)
SEX-CHROMOSOME ABNORMALITIES IN NEWBORN BABIES.Lancet, 1 7328
(1963)
Presumptive iso-chromosomes for t,ho long arm of X in man
(1963)
HI - thymidine uptake by a ring X
M. Aspillaga, M. Voorhess, D. Wright, L. Gardner (1964)
A NEW MOSAIC: XX-XO-XX.Lancet, 1 7344
P. Moorhead, P. Nowell, W. Mellman, D. Battips, D. Hungerford (1960)
Chromosome preparations of leukocytes cultured from human peripheral blood.Experimental cell research, 20
(1961)
Chromosornal mosaicism in a case of Klinefelter’s syndrome associated with DE GROUCHY
(1961)
Chromosornal mosaicism in a case of Klinefelter ’ s syndrome associated with
(1964)
HI-thymidine uptake by a ring X chronloSCHMID
J. Böök, B. Santesson, P. Zetterqvist (1959)
Association Between Congenital Heart Malformation and Chromosomal Variations 1Acta Pædiatrica, 48
X chromosome in primary amenorrhosea or in severe oligomenorrhoea
M. Grumbach, A. Morishima, J. Taylor (1963)
HUMAN SEX CHROMOSOME ABNORMALITIES IN RELATION TO DNA REPLICATION AND HETEROCHROMATINIZATION.Proceedings of the National Academy of Sciences of the United States of America, 49 5
M. Aspillaga, M. Voorhess, D. Wright, L. Gardner (1964)
A NEW MOSAIC: XX/XO/XThe Lancet, 283
de CHAPELLE (1962)
Cytogenetical and clinical observations in female gonadal dysgenesis.Acta endocrinologica. Supplementum, 40(Suppl 65)
J. Gall, William Johnson (1960)
Is there "Metabolic" DNA in the Mouse Seminal Vesicle?The Journal of Biophysical and Biochemical Cytology, 7
(1963)
Two ‘new’ sex-chromosome mosaics XO/XX, XX/XX (deletion of CRAWFURD
O. Miller, B. Mukherjee, S. Bader, A. Christakos (1963)
Autoradiographic Studies of X-chromosome Duplication in an XO/X-isochromosome X Mosaic Human FemaleNature, 200
(1960)
Chrornosome preparations of leukocytes cultured from human peripheral blood
(1964)
Distributive pairing and aneuploidy
Böök Böök, Santesson Santesson, Zetterqvist Zetterqvist (1961)
Association between congenital heart inelformation and chromosomal variationsActa Paediat., 50
Morishima Morishima, Grumbach Grumbach, Taylor Taylor (1962)
Asynchronous duplication of human chromosomes and the origin of sex chromatinProc. Nat. Acad. Sci., Wash., 48
(1963)
Human sex chromosome abnormalities
R. Grell, Juan Valencia (1964)
Distributive Pairing and Aneuploidy in ManScience, 145
(1961)
Further abnormalities of the DE LA CHAPELLE
K. Becker, J. Paris, A. Albert (1963)
OVARIAN DYSGENESIS DUE TO DELETION OF THE X CHROMOSOME.Proceedings of the staff meetings. Mayo Clinic, 38
Atkins Atkins, Gustavson Gustavson (1964)
The pattern of DNA synthesis in human chromosomes in cells with an XXY sex chromosome constitutionHereditas, 51
M. Lyon (1962)
Sex chromatin and gene action in the mammalian X-chromosome.American journal of human genetics, 14
Powren Powren, Cooper Cooper (1962)
Recognition of transformed small lymphocytes by combined chromosomal and isotopic labelsLancet, ii
W. Schmid (1963)
DNA REPLICATION PATTERNS OF HUMAN CHROMOSOMES.Cytogenetics, 2
S. Muldal, C. Gilbert, L. Lajtha, J. Lindsten, J. Rowley, M. Fraccaro (1963)
TRITIATED THYMIDINE INCORPORATION IN AN ISOCHROMOSOME FOR THE LONG ARM OF THE X CHROMOSOME IN MANThe Lancet, 281
H. Klinefelter, F. Albright, G. Griswold (1943)
Experience with a Quantitative Test for Normal or Decreased Amounts of Follicle Stimulating Hormone in the Urine in Endocrinological DiagnosisThe Journal of Clinical Endocrinology and Metabolism, 3
(1964)
The pattern of DNA synthssis in the chromosomes of human blood cells
Becker Becker, Hayles Hayles, Albert Albert (1963)
Gonadal dysgenesis due to mosaicism of an X chromosome fragmentProc. Staff Meetings, Mayo Clinic, 38
BY L. ATKINS," BERTA SANTESSONT AND H. VOSS$ Institute for Medical Genetics, Uppsala, Sweden ;Department of Pathology and the .Joseph P. Kennedy, Jr. Laboratories of the Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts ;and Barnkliniken, Sundsvalls Lasarett , Sundsvall, Sweden Partial deletion of an X chromosome involving the long arm or both arms has been described in a number of cases (Jacobs, Harnden, Court Brown, Goldstein, Close, MacGregor, Maclean & Strong, 1960; de Grouchy, Lamy, Yaneva, Salomon & Netter, 1961; de la Chapelle, 1962; Becker, Paris & Albert, 1963; Becker, Hayles & Albert, 1963; Maclean, Harnden, Court Brown, Bond & Mantle, 1964; Crawfurd, 1961; Valencia, Sonnenschein, Bur & de Lozzio, 1964). Ring chromosomes, which involve the loss of chromosomal material from both arms, are not considered here. There have been five reports of individuals with a deletion involving the short arm of an X chromosome (Jacobs, Harnden, Buckton, Court Brown, King, McBride, MacGregor & Maclean, 1961 ;Lindsten, 1963; Conen & Erkman, 1963; Aspillaga, Voorhess, Wright & Gardner, 1964; London, Kemp, Ellis & Mittwoch, 1964). The present report concerns a sexually immature 14-year-old girl with short stature and infantile ovaries in association with a deletion involving the short
Annals of Human Genetics – Wiley
Published: Aug 1, 1965
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