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February 1963, Vol 105, No. 2 >
Article | February 1963

Cockayne's Syndrome with Chromosomal Analysis FREE

J. WINDMILLER, M.D.; P. J. WHALLEY, M.D.; C. W. FINK, M.D.
[+] Author Affiliations

Submitted for publication Dec. 1, 1961.

This study was supported in part by a grant from the University of Texas Southwestern Medical School Institutional Research Funds (No. 2436).


Am J Dis Child. 1963;105(2):204-208. doi:10.1001/archpedi.1963.02080040206013.
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References
Comments

Introduction  Since the introduction of techniques for the examination of human chromosomes, a number of congenital anomalies have been found to be associated with autosomal trisomy. The most well documented is the clinical syndrome of mongolism which is associated with trisomy of one of the small acrocentric chromosomes belonging to Group 21-22.1-3 Other less common trisomic conditions which have been described include trisomy involving Groups 13-15,4-6 16-18,7-9 19-20,10 and 21-22.11 In a recent preliminary report, Civantos12 described a case of Cockayne's syndrome in which 47 chromosomes were found, the extra chromosome belonging to Group 19-20 and tentatively identified as No. 20.Cockayne's syndrome is a rare heredofamilial disorder first described in 2 siblings in 1936 by E. A. Cockayne.13-14 Since the original description 7 additional cases have been recorded: 2 brothers described by Neill and Dingwall,15 2 brothers and 1 sister described

REFERENCES

1 +
Jacobs, P. A.; Baikie, A. G.; Court Brown, W. M., and Strong, J. A.:  The Somatic Chromosomes in Mongolism , Lancet 1:710, 1959;.
2 +
Lejeune, J.; Gautier, M., and Turpin, R.:  Étude des chromosomes somatiques de neuf enfants mongoliens , C.R. Acad. Sci. (Par.) 248:1721-1722, 1959;.
3 +
Book, J. A.; Fraccaro, M., and Lindsten, J.:  Cytogenetical Observations in Mongolism , Acta Paediat. 48:453-468, 1959;.
4 +
Patau, K.; Smith, D. W.; Therman, E.; Inhorn, S. L., and Wagner, H. P.:  Multiple Congenital Anomaly Caused by an Extra Autosome , Lancet 1:790-793, 1960;.
5 +
Therman, E.; Patau, K.; Smith, D. W., and Demars, R. I.:  The D Trisomy Syndrome and XO Gonadal Dysgenesis in 2 Sisters , Amer. J. Hum. Genet. 13:193-204, 1961;.
6 +
Atkins, L., and Rosenthal, M. K.:  Multiple Congenital Abnormalities Associated with Chromosomal Trisomy , New Engl. J. Med. 265:314-318, 1961;.
7 +
Edwards, J. H.; Harnden, D. G.; Cameron, A. H.; Crosse, V. M., and Wolff, O. H.:  A New Trisomic Syndrome , Lancet 1:787-790, 1960;.
8 +
Smith, D. W.; Patau, K.; Therman, E., and Inhorn, S. L.:  A New Autosomal Trisomy Syndrome: Multiple Congenital Anomalies Caused by an Extra Chromosome , J. Pediat. 57:338-345, 1960;.
9 +
van Wijck, J. A. M.; Stolte, L. A. M.; van Kessel, H. I. A. M., and Tijdink, G. A. J.:  A Trisomic Child of Hyperthyroid Mother , Lancet 1:887-888, 1961;.
10 +
Book, J. A.; Santesson, B., and Zetterqvist, P.:  Association Between Congenital Heart Malformations and Chromosomal Variations , Acta Paediat. 50:217-227, 1961;.
11 +
Hayward, M. D., and Bower, B. D.:  Chromosomal Trisomy Associated with the Sturge-Weber Syndrome , Lancet 2:844-846, 1960;.
12 +
Civantos, F.:  Human Chromosomal Abnormalities , Bull. Tulane Med. Fac. 20:241-253, 1961;.
13 +
Cockayne, E. A.:  Dwarfism with Retinal Atrophy and Deafness , Arch. Dis. Child. 11:1-8, 1936;.
14 +
Cockayne, E. A.:  Case Reports: Dwarfism with Retinal Atrophy and Deafness , Arch. Dis. Child. 21:52-54, 1946;.
15 +
Neill, C. A., and Dingwall, M. M.:  A Syndrome Resembling Progeria: A Review of 2 Cases , Arch. Dis. Child. 25:213-221, 1950;.
16 +
Macdonald, W. B.; Fitch, K. D., and Lewis, I. C.:  Cockayne's Syndrome: An Heredo-Familial Disorder of Growth and Development , Pediatrics 25:997-1007, 1960;.
17 +
Wilkins, L.: The Diagnosis and Treatment of Endocrine Disorders in Childhood and Adolescence , Ed. 2, Springfield, Ill., Charles C Thomas, Publisher, 1957;, pp. 163-164.
18 +
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;.
19 +
Thomson, J., and Forfar, J. O.:  Progeria (Hutchinson-Gilford Syndrome): Report of a Case and Review of the Literature , Arch. Dis. Child. 25:224-234, 1950;.
20 +
Clarke, C. M.; Edwards, J. H., and Small-peice, V.:  21-Trisomy/Normal Mosaicism in an Intelligent Child with Some Mongoloid Characters , Lancet 1:1028-1030, 1961;.
21 +
Gustavson, K. H., and Ek, J. I.:  Triple Stem Line Mosaicism in Mongolism , Lancet 2:319, 1961;.
22 +
Sohval, A. R.:  Recent Progress in Human Chromosome Analysis and Its Relation to the Sex Chromatin , Amer. J. Med. 31:397-441, 1961;.
23 +
Fraccaro, M.; Kaijser, K., and Lindsten, J.:  Chromosomal Abnormalities in Father and Mongol Child , Lancet 1:724-727, 1960;.

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References

1 +
Jacobs, P. A.; Baikie, A. G.; Court Brown, W. M., and Strong, J. A.:  The Somatic Chromosomes in Mongolism , Lancet 1:710, 1959;.
2 +
Lejeune, J.; Gautier, M., and Turpin, R.:  Étude des chromosomes somatiques de neuf enfants mongoliens , C.R. Acad. Sci. (Par.) 248:1721-1722, 1959;.
3 +
Book, J. A.; Fraccaro, M., and Lindsten, J.:  Cytogenetical Observations in Mongolism , Acta Paediat. 48:453-468, 1959;.
4 +
Patau, K.; Smith, D. W.; Therman, E.; Inhorn, S. L., and Wagner, H. P.:  Multiple Congenital Anomaly Caused by an Extra Autosome , Lancet 1:790-793, 1960;.
5 +
Therman, E.; Patau, K.; Smith, D. W., and Demars, R. I.:  The D Trisomy Syndrome and XO Gonadal Dysgenesis in 2 Sisters , Amer. J. Hum. Genet. 13:193-204, 1961;.
6 +
Atkins, L., and Rosenthal, M. K.:  Multiple Congenital Abnormalities Associated with Chromosomal Trisomy , New Engl. J. Med. 265:314-318, 1961;.
7 +
Edwards, J. H.; Harnden, D. G.; Cameron, A. H.; Crosse, V. M., and Wolff, O. H.:  A New Trisomic Syndrome , Lancet 1:787-790, 1960;.
8 +
Smith, D. W.; Patau, K.; Therman, E., and Inhorn, S. L.:  A New Autosomal Trisomy Syndrome: Multiple Congenital Anomalies Caused by an Extra Chromosome , J. Pediat. 57:338-345, 1960;.
9 +
van Wijck, J. A. M.; Stolte, L. A. M.; van Kessel, H. I. A. M., and Tijdink, G. A. J.:  A Trisomic Child of Hyperthyroid Mother , Lancet 1:887-888, 1961;.
10 +
Book, J. A.; Santesson, B., and Zetterqvist, P.:  Association Between Congenital Heart Malformations and Chromosomal Variations , Acta Paediat. 50:217-227, 1961;.
11 +
Hayward, M. D., and Bower, B. D.:  Chromosomal Trisomy Associated with the Sturge-Weber Syndrome , Lancet 2:844-846, 1960;.
12 +
Civantos, F.:  Human Chromosomal Abnormalities , Bull. Tulane Med. Fac. 20:241-253, 1961;.
13 +
Cockayne, E. A.:  Dwarfism with Retinal Atrophy and Deafness , Arch. Dis. Child. 11:1-8, 1936;.
14 +
Cockayne, E. A.:  Case Reports: Dwarfism with Retinal Atrophy and Deafness , Arch. Dis. Child. 21:52-54, 1946;.
15 +
Neill, C. A., and Dingwall, M. M.:  A Syndrome Resembling Progeria: A Review of 2 Cases , Arch. Dis. Child. 25:213-221, 1950;.
16 +
Macdonald, W. B.; Fitch, K. D., and Lewis, I. C.:  Cockayne's Syndrome: An Heredo-Familial Disorder of Growth and Development , Pediatrics 25:997-1007, 1960;.
17 +
Wilkins, L.: The Diagnosis and Treatment of Endocrine Disorders in Childhood and Adolescence , Ed. 2, Springfield, Ill., Charles C Thomas, Publisher, 1957;, pp. 163-164.
18 +
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;.
19 +
Thomson, J., and Forfar, J. O.:  Progeria (Hutchinson-Gilford Syndrome): Report of a Case and Review of the Literature , Arch. Dis. Child. 25:224-234, 1950;.
20 +
Clarke, C. M.; Edwards, J. H., and Small-peice, V.:  21-Trisomy/Normal Mosaicism in an Intelligent Child with Some Mongoloid Characters , Lancet 1:1028-1030, 1961;.
21 +
Gustavson, K. H., and Ek, J. I.:  Triple Stem Line Mosaicism in Mongolism , Lancet 2:319, 1961;.
22 +
Sohval, A. R.:  Recent Progress in Human Chromosome Analysis and Its Relation to the Sex Chromatin , Amer. J. Med. 31:397-441, 1961;.
23 +
Fraccaro, M.; Kaijser, K., and Lindsten, J.:  Chromosomal Abnormalities in Father and Mongol Child , Lancet 1:724-727, 1960;.

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