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Ring Chromosome 13 in a Child With Minor Dysmorphic Features: Irregular Phenotypic Expression of Ring 13 Syndrome

Ring Chromosome 13 in a Child With Minor Dysmorphic Features: Irregular Phenotypic Expression of... Abstract • A patient with ring chromosome 13 had some physical stigmata that to our knowledge have not been reported in previous articles. These include alopecia, scattered pigmentation, trigonocephaly, and telecanthic fold. This case reemphasizes how mitotic instability can produce clinical features during the critical period of organogenesis. (Am J Dis Child 132:1018-1021, 1978) References 1. Yunis JJ: New Chromosomal Syndromes . New York, Academic Press Inc, 1977. 2. DeGrouchy J, Turleau C: Clinical Areas of Human Chromosomes . New York, John Wiley & Sons Inc, 1977, pp 126-135. 3. Hecht F, Vlietinck RF: Autosomal rings and variable phenotypes . Humangenetik 18:99-100, 1973. 4. Zdansky R, Andrle M, Buhler E, et al: Irregular phenotypic expression of ring chromosomes . Humangenetik 26:193-198, 1975. 5. Fried K, Rosenblatt M, Mundel G, et al: Ring chromosome 13 . Clin Genet 7:203-208, 1975.Crossref 6. Fryns JP, Deoover J, Van den Berghe H: Malformative syndrome with ring chromosome 13 . Humangenetik 24:235-240, 1974. 7. Hoo JJ, Obermann U, Cramer H: The behavior of a ring chromosome 13 . Humangenetik 24:161-171, 1974. 8. Niebuhr E: Re-examination of a family with a t (13q14q) ring D (13) child . Ann Genet 16:199-202, 1973. 9. Niebuhr E, Ottosen J: Ring chromosome D(13) associated with multiple congenital malformations . Ann Genet 16:157-166, 1973. 10. Schmid W, Muhlethaler JP, Briner J, et al: Ring chromosome 13 in a polymalformed anencephalic . Humangenetik 27:63-66, 1975. 11. Standardization in Human Cytogenetics . Birth Defects: Original Article Series vol XI, No. (9) . Paris conference, 1971; supplement, 1975. New York, The National Foundation, 1975. 12. Verma RS, Lubs HA: A simple R banding technique . Am J Hum Genet 27:110-117, 1975. 13. Verma RS, Lubs HA: Additional observations on the preparation of R banded human chromosome with acridine orange . Can J Genet Cytol 18:45-50, 1976. 14. Verma RS, Dosik H: An improved method for photographing fluorescent human chromosomes . J Microsc 108:339-341, 1976.Crossref 15. Seabright M: A rapid banding technique for human chromosomes . Lancet 2:971-972, 1971.Crossref 16. Summer AT: A simple technique for demonstrating centromeric heterochromatin . Exp Cell Res 75:304-306, 1972.Crossref 17. McCandless A, Walker S: D13 ring chromosome syndrome . Arch Dis Child 51:449-453, 1976.Crossref 18. Magenis RE, Wyandt HE, Overton KM, et al: Parental origin of a ring 13 chromosome in a female with multiple anomalies . Hum Genet 33:181-186, 1976.Crossref 19. Noel B, Quak B, Rethore MO: Partial deletions and trisomies of chromosome 13: Mapping of bands associated with particular malformation . Clin Genet 9:593-602, 1976.Crossref 20. Hoo JJ, Hillig U, Cramer H, et al: Familial short arm deletion of chromosome 15 . Humangenetik 21:283-286, 1974. 21. Niebuhr E: Partial trisomies and deletions of chromosome 13 , in Yunis JJ (ed): New Chromosome Syndromes . New York, Academic Press Inc, 1977, pp 273-275. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Diseases of Children American Medical Association

Ring Chromosome 13 in a Child With Minor Dysmorphic Features: Irregular Phenotypic Expression of Ring 13 Syndrome

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Publisher
American Medical Association
Copyright
Copyright © 1978 American Medical Association. All Rights Reserved.
ISSN
0002-922X
DOI
10.1001/archpedi.1978.02120350082018
Publisher site
See Article on Publisher Site

Abstract

Abstract • A patient with ring chromosome 13 had some physical stigmata that to our knowledge have not been reported in previous articles. These include alopecia, scattered pigmentation, trigonocephaly, and telecanthic fold. This case reemphasizes how mitotic instability can produce clinical features during the critical period of organogenesis. (Am J Dis Child 132:1018-1021, 1978) References 1. Yunis JJ: New Chromosomal Syndromes . New York, Academic Press Inc, 1977. 2. DeGrouchy J, Turleau C: Clinical Areas of Human Chromosomes . New York, John Wiley & Sons Inc, 1977, pp 126-135. 3. Hecht F, Vlietinck RF: Autosomal rings and variable phenotypes . Humangenetik 18:99-100, 1973. 4. Zdansky R, Andrle M, Buhler E, et al: Irregular phenotypic expression of ring chromosomes . Humangenetik 26:193-198, 1975. 5. Fried K, Rosenblatt M, Mundel G, et al: Ring chromosome 13 . Clin Genet 7:203-208, 1975.Crossref 6. Fryns JP, Deoover J, Van den Berghe H: Malformative syndrome with ring chromosome 13 . Humangenetik 24:235-240, 1974. 7. Hoo JJ, Obermann U, Cramer H: The behavior of a ring chromosome 13 . Humangenetik 24:161-171, 1974. 8. Niebuhr E: Re-examination of a family with a t (13q14q) ring D (13) child . Ann Genet 16:199-202, 1973. 9. Niebuhr E, Ottosen J: Ring chromosome D(13) associated with multiple congenital malformations . Ann Genet 16:157-166, 1973. 10. Schmid W, Muhlethaler JP, Briner J, et al: Ring chromosome 13 in a polymalformed anencephalic . Humangenetik 27:63-66, 1975. 11. Standardization in Human Cytogenetics . Birth Defects: Original Article Series vol XI, No. (9) . Paris conference, 1971; supplement, 1975. New York, The National Foundation, 1975. 12. Verma RS, Lubs HA: A simple R banding technique . Am J Hum Genet 27:110-117, 1975. 13. Verma RS, Lubs HA: Additional observations on the preparation of R banded human chromosome with acridine orange . Can J Genet Cytol 18:45-50, 1976. 14. Verma RS, Dosik H: An improved method for photographing fluorescent human chromosomes . J Microsc 108:339-341, 1976.Crossref 15. Seabright M: A rapid banding technique for human chromosomes . Lancet 2:971-972, 1971.Crossref 16. Summer AT: A simple technique for demonstrating centromeric heterochromatin . Exp Cell Res 75:304-306, 1972.Crossref 17. McCandless A, Walker S: D13 ring chromosome syndrome . Arch Dis Child 51:449-453, 1976.Crossref 18. Magenis RE, Wyandt HE, Overton KM, et al: Parental origin of a ring 13 chromosome in a female with multiple anomalies . Hum Genet 33:181-186, 1976.Crossref 19. Noel B, Quak B, Rethore MO: Partial deletions and trisomies of chromosome 13: Mapping of bands associated with particular malformation . Clin Genet 9:593-602, 1976.Crossref 20. Hoo JJ, Hillig U, Cramer H, et al: Familial short arm deletion of chromosome 15 . Humangenetik 21:283-286, 1974. 21. Niebuhr E: Partial trisomies and deletions of chromosome 13 , in Yunis JJ (ed): New Chromosome Syndromes . New York, Academic Press Inc, 1977, pp 273-275.

Journal

American Journal of Diseases of ChildrenAmerican Medical Association

Published: Oct 1, 1978

References