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November 1963, Vol 106, No. 5 >
Article | November 1963

XXXXY Sex-Chromosome Abnormality FREE

LEONARD ATKINS, MD; JOHN P. CONNELLY, MD
[+] Author Affiliations

Received for publication May 24, 1963.

This work was supported by US Atomic Energy Commission Contract AT (30-1)-2031 and US Public Health Service Grant HE-01529.


Am J Dis Child. 1963;106(5):514-519. doi:10.1001/archpedi.1963.02080050516022.
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At least nine males with an XXXXY sexchromosome constitution have been described.1-9 One of these, a nine-year-old boy described by Anders and co-workers,3 had bone marrow cells that contained three to five X chromosomes with most cells containing four X chromosomes. Another case in this group, not reported in detail, was an XXXXY/XXXY mosaic found in a large survey of mental institutions by Maclean et al.6 Skeletal and genital anomalies as well as mental deficiency were common to all the fully reported cases with ages ranging from three months to 21 years. Other abnormalities that were inconstantly found included strabismus, congenital heart disease, microcephaly, short stature, cleft palate, and hypertelorism. Testicular biopsy specimens obtained from five of the patients showed a connective tissue stroma with a few hypoplastic seminiferous tubules and no germ cells. A biopsy specimen obtained from the 7½-month-old boy reported by Barr et al

REFERENCES

1 +
Fraccaro, M.; Kaijser, K.; and Lindsten, J.:  A Child with 49 Chromosomes , Lancet 2:899-902, 1960;.
2 +
Fraccaro, M., and Lindsten, J.:  A Child With 49 Chromosomes , Lancet 2:1303, 1960;.
3 +
Anders, G.; Prader, A.; Hauschteck, E.; Schärer, K.; Siebenmann, R. E.; and Heller, R.:  Multiple Sex-Chromatin und komplexes chromosomales Mossik bei einem Knaben mit Idiotie and multiplen Missbildungen , Helv Paediat Acta 15:515-532, 1960;.
4 +
Miller, O. J.; Breg, W. R.; Schmickel, R. D.; and Tretter, W.:  A Family With an XXXXY Male, a Leukaemic Male, and Two 21-Trisomic Mongoloid Females , Lancet 2:78-79, 1961;.
5 +
Fraser, J. H.; Boyd, E.; Lennox, B.; and Dennison, W. M.:  A Case of XXXXY Klinefelter's Syndrome , Lancet 2:1064-1067, 1961;.
6 +
Maclean, N.; Mitchell, J. M.; Harnden, D. G.; Williams, J.; Jacobs, P. A.; Buckton, K.; Baikie, A. G.; Court Brown, W. M.; McBride, J. A.; Strong, J. A.; Close, H. G.; and Jones, D. C.:  A Survey of Sex-Chromosome Abnormalities Among 4,514 Mental Defectives , Lancet 1:293-296, 1962;.
7 +
Barr, M. L.; Carr, D. H.; Pozsonyi, J.; Wilson, R. A.; Dunn, H. G.; Jacobson, T. S.; Miller, J. R.; Lewis, M.; and Chown, B.:  The XXXXY Sex Chromosome Abnormality , Canad Med Ass J 87:891-901, 1962;.
8 +
Fraccaro, M.; Klinger, R. R.; and Schutt, W. A.:  A Male With XXXXY Chromosome , Cytogenetics 1:52-64, 1962;.
9 +
Turpin, R.; Lafourcade, J.; Cruveiller, J.; Lejeune, J.; Bocquet, G.; Hoppeler, A.; and Cuibert C.:  Dysgénésie gonado-somatique XXXXY: Observation néo-natale , Bull Soc Med Hop Paris 113:916-929, 1962;.
10 +
Moorhead, P. S.; Nowell, P. C.; Mellman, W. J.; Battips, D. M.; and Hungerford, D. A.:  Chromosome Preparations of Leukocytes Cultured From Human Peripheral Blood , Exp Cell Res 20:613-616, 1960;.
11 +
Harnden, D. G.:  Human Skin Culture Technique Used for Cytological Examinations , Brit J Exp Path 41:31-37, 1960;.
12 +
Mann, J. D.; Cahan, A.; Gelb, A. G.; Fisher, N.; Hamper, J.; Tippett, P.; Sanger, R.; and Race, R. R.:  A Sex-Linked Blood Group , Lancet 1:8-10, 1962;.
13 +
Barr, M. L.. and Carr, D. H.:  Correlations Between Sex Chromatin and Sex Chromosomes , Acta Cytol (Phila) 6:34-35, 1962;.
14 +
Grumbach, M. M., and Morishima, A.:  Sex Chromatin and the Sex Chromosomes: The Origin of Sex Chromatin From a Single X Chromosome , Acta Cytol (Phila) 6:46-60, 1962;.
15 +
Morishima, A.; Grumbach, M. M.; and Taylor, J. H.:  Asychronous Duplication of Human Chromosomes and the Origin of the Sex Chromatin , Proc Nat Acad Sci USA 48:756-763, 1962;.
16 +
Rowley, J.; Muldal, S.; Gilbert, C. W.; Lajtha, L. G.; Lindsten, J.; Fraccaro, M.; and Kaijser, K.:  Synthesis of Deoxyribonucleic Acid on X-Chromosomes of an XXXXY Male , Nature 197:251-252, 1963;.

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References

1 +
Fraccaro, M.; Kaijser, K.; and Lindsten, J.:  A Child with 49 Chromosomes , Lancet 2:899-902, 1960;.
2 +
Fraccaro, M., and Lindsten, J.:  A Child With 49 Chromosomes , Lancet 2:1303, 1960;.
3 +
Anders, G.; Prader, A.; Hauschteck, E.; Schärer, K.; Siebenmann, R. E.; and Heller, R.:  Multiple Sex-Chromatin und komplexes chromosomales Mossik bei einem Knaben mit Idiotie and multiplen Missbildungen , Helv Paediat Acta 15:515-532, 1960;.
4 +
Miller, O. J.; Breg, W. R.; Schmickel, R. D.; and Tretter, W.:  A Family With an XXXXY Male, a Leukaemic Male, and Two 21-Trisomic Mongoloid Females , Lancet 2:78-79, 1961;.
5 +
Fraser, J. H.; Boyd, E.; Lennox, B.; and Dennison, W. M.:  A Case of XXXXY Klinefelter's Syndrome , Lancet 2:1064-1067, 1961;.
6 +
Maclean, N.; Mitchell, J. M.; Harnden, D. G.; Williams, J.; Jacobs, P. A.; Buckton, K.; Baikie, A. G.; Court Brown, W. M.; McBride, J. A.; Strong, J. A.; Close, H. G.; and Jones, D. C.:  A Survey of Sex-Chromosome Abnormalities Among 4,514 Mental Defectives , Lancet 1:293-296, 1962;.
7 +
Barr, M. L.; Carr, D. H.; Pozsonyi, J.; Wilson, R. A.; Dunn, H. G.; Jacobson, T. S.; Miller, J. R.; Lewis, M.; and Chown, B.:  The XXXXY Sex Chromosome Abnormality , Canad Med Ass J 87:891-901, 1962;.
8 +
Fraccaro, M.; Klinger, R. R.; and Schutt, W. A.:  A Male With XXXXY Chromosome , Cytogenetics 1:52-64, 1962;.
9 +
Turpin, R.; Lafourcade, J.; Cruveiller, J.; Lejeune, J.; Bocquet, G.; Hoppeler, A.; and Cuibert C.:  Dysgénésie gonado-somatique XXXXY: Observation néo-natale , Bull Soc Med Hop Paris 113:916-929, 1962;.
10 +
Moorhead, P. S.; Nowell, P. C.; Mellman, W. J.; Battips, D. M.; and Hungerford, D. A.:  Chromosome Preparations of Leukocytes Cultured From Human Peripheral Blood , Exp Cell Res 20:613-616, 1960;.
11 +
Harnden, D. G.:  Human Skin Culture Technique Used for Cytological Examinations , Brit J Exp Path 41:31-37, 1960;.
12 +
Mann, J. D.; Cahan, A.; Gelb, A. G.; Fisher, N.; Hamper, J.; Tippett, P.; Sanger, R.; and Race, R. R.:  A Sex-Linked Blood Group , Lancet 1:8-10, 1962;.
13 +
Barr, M. L.. and Carr, D. H.:  Correlations Between Sex Chromatin and Sex Chromosomes , Acta Cytol (Phila) 6:34-35, 1962;.
14 +
Grumbach, M. M., and Morishima, A.:  Sex Chromatin and the Sex Chromosomes: The Origin of Sex Chromatin From a Single X Chromosome , Acta Cytol (Phila) 6:46-60, 1962;.
15 +
Morishima, A.; Grumbach, M. M.; and Taylor, J. H.:  Asychronous Duplication of Human Chromosomes and the Origin of the Sex Chromatin , Proc Nat Acad Sci USA 48:756-763, 1962;.
16 +
Rowley, J.; Muldal, S.; Gilbert, C. W.; Lajtha, L. G.; Lindsten, J.; Fraccaro, M.; and Kaijser, K.:  Synthesis of Deoxyribonucleic Acid on X-Chromosomes of an XXXXY Male , Nature 197:251-252, 1963;.

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