A ring D chromosome in association with Down's syndrome-like phenotype

Wajntal, A.; Diament, A. J.; Saldanha, P. H.

doi:10.1590/S0004-282X1973000100004

Abstracts

The case of a ten-years-old mentally retarded girl with Down's syndrome-like features whose chromosome analysis revealed an unusual mosaicism including 10% mitosis with a ring chromosome replacing a D chromosome is reported. The clinical features of the patient were considered similar to those described by Jacobsen (1966) and Emberger et al. (1971) who interpreted the ring chromosome present in their patients as being chromosome 15.

Relata-se um caso de uma menina com 10 anos de idade, mentalmente retardada e com semelhanças com a síndrome de Down, cuja análise cromossômica revelou um mosaicismo pouco freqüente, incluindo 10% de mitoses com um cromossoma em anel substituindo um cromossoma D. O quadro clínico da paciente é similar ao descrito por Jacobsen (1966) e Emberger et al. (1971) que interpretaram a presença do cromossoma em anel em seus pacientes como sendo o cromossoma 15.

A ring D chromosome in association with Down's syndrome-like phenotype

Melkersson-Rosenthal's syndrome. Review of the literature and report of four cases

A. Wajntal^I; A. J. Diament^II; P. H. Saldanha^I

^ILaboratório de Genética Médica, Faculdade de Medicina, Universidade de São Paulo

^IIDepartamento de Neuropsiquiatria, Faculdade de Medicina, Universidade de São Paulo

SUMMARY

The case of a ten-years-old mentally retarded girl with Down's syndrome-like features whose chromosome analysis revealed an unusual mosaicism including 10% mitosis with a ring chromosome replacing a D chromosome is reported. The clinical features of the patient were considered similar to those described by Jacobsen (1966) and Emberger et al. (1971) who interpreted the ring chromosome present in their patients as being chromosome 15.

RESUMO

Relata-se um caso de uma menina com 10 anos de idade, mentalmente retardada e com semelhanças com a síndrome de Down, cuja análise cromossômica revelou um mosaicismo pouco freqüente, incluindo 10% de mitoses com um cromossoma em anel substituindo um cromossoma D. O quadro clínico da paciente é similar ao descrito por Jacobsen (1966) e Emberger et al. (1971) que interpretaram a presença do cromossoma em anel em seus pacientes como sendo o cromossoma 15.

Texto completo disponível apenas em PDF.

Full text available only in PDF format.

Laboratório de Genética Médica Faculdade de Medicina da Universidade de São Paulo P.O. Box 2921 01000 São Paulo, SP Brasil.

Aknowledgements The authors are deeply indebted to Mrs. Tiyo T. Matsuo, Mrs. Célia P. Koiffmann, Mrs. Betty Knobel and Miss Sueli B. Itskan for their technical assistance.

1. ALLDERICE, P. W.; DAVIS, J. G.; MILLER, O. J.; KLINGER, H. P.; WARBURTON, D.; MILLER, D. A.; ALLEN, F. H.; ABRAMS, C. A. L. & MCGILLVRAY, E. The 13q-deletion syndrome. Amer. J. hum. Genet. 21:499, 1969.
2. BLOOM, G. E.; GERALD, P. S. & REISMAN, L. E. Ring D chromosome: a second case associated with anomalous haptoglobin inheritance. Science 156: 1746, 1967.
3. EMBERGER, J. M.; ROSSI, D.; JEAN, R.; BONNET, H. & DUMAS, R. Étude d'une observation de chromosome des group 13-15 en anneau (46, XY, 15r). Humangenetik 11:295, 1971.
4. GERALD, P. S.; WARNER, S.; SINGER, J. D.; CORCORAN, P. A. & UMANSKY, I. A ring D chromosome and anomalous inheritance of haptoglobin type J. Pediat. 70:172, 1987.
5. JACOBSEN, P. A ring chromosome in the 13-15 group associated with microcephalic dwarfism, mental retardation and emotional immaturity. Hereditas 55: 188, 1966.
6. LEJEUNE, J. La duplication de structures circulates. Ann. Genet. 11:71, 1968.
7. McCLINTOCK, B. The production of homozygous deficient tissues with mutant characteristics by means of the aberrant mitotic behavior of a ring shaped chromosome. Genetics 23:315, 1938.
8. MOORHEAD, P. S.; NOWELL, P. C.; MELLMAN, W. J.; BATTIPS, D. M. & HUNGERFORD, D. A. Chromosome preparations of leukocytes cultured from human peripheral blood. Expt. Cell. Res. 20:613, 1960.
9. MORGAN, T. H. A closed X chromosome in Drosophila melanogaster. Genetics 18:250, 1933.
10. SMITH WHITE, S.; PEACOCK, W. J.; TURNER, B. & DEN DULK, G. M. A ring chromosome in man. Nature 197:102, 1963.

Publication Dates

Publication in this collection
16 Apr 2013
Date of issue
Mar 1973

This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.

[1] 1. ALLDERICE, P. W.; DAVIS, J. G.; MILLER, O. J.; KLINGER, H. P.; WARBURTON, D.; MILLER, D. A.; ALLEN, F. H.; ABRAMS, C. A. L. & MCGILLVRAY, E. The 13q-deletion syndrome. Amer. J. hum. Genet. 21:499, 1969.

[2] 2. BLOOM, G. E.; GERALD, P. S. & REISMAN, L. E. Ring D chromosome: a second case associated with anomalous haptoglobin inheritance. Science 156: 1746, 1967.

[3] 3. EMBERGER, J. M.; ROSSI, D.; JEAN, R.; BONNET, H. & DUMAS, R. Étude d'une observation de chromosome des group 13-15 en anneau (46, XY, 15r). Humangenetik 11:295, 1971.

[4] 4. GERALD, P. S.; WARNER, S.; SINGER, J. D.; CORCORAN, P. A. & UMANSKY, I. A ring D chromosome and anomalous inheritance of haptoglobin type J. Pediat. 70:172, 1987.

[5] 5. JACOBSEN, P. A ring chromosome in the 13-15 group associated with microcephalic dwarfism, mental retardation and emotional immaturity. Hereditas 55: 188, 1966.

[6] 6. LEJEUNE, J. La duplication de structures circulates. Ann. Genet. 11:71, 1968.

[7] 7. McCLINTOCK, B. The production of homozygous deficient tissues with mutant characteristics by means of the aberrant mitotic behavior of a ring shaped chromosome. Genetics 23:315, 1938.

[8] 8. MOORHEAD, P. S.; NOWELL, P. C.; MELLMAN, W. J.; BATTIPS, D. M. & HUNGERFORD, D. A. Chromosome preparations of leukocytes cultured from human peripheral blood. Expt. Cell. Res. 20:613, 1960.

[9] 9. MORGAN, T. H. A closed X chromosome in Drosophila melanogaster. Genetics 18:250, 1933.

[10] 10. SMITH WHITE, S.; PEACOCK, W. J.; TURNER, B. & DEN DULK, G. M. A ring chromosome in man. Nature 197:102, 1963.