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A Case of “G 2 Deletion Syndrome”: Ring or Partial Monosomy? (46,XX,22r or 46,XX,22p- ?)

Published online by Cambridge University Press:  01 August 2014

M. Milani-Comparetti ,
V. Rossolini ,
D.P. Pace ,
M. Burroni ,
R. Magistrelli  and
F. Saccucci
M. Milani-Comparetti*
Affiliation:
Department of Biology and Genetics, Medical School, University of Ancona, Italy
V. Rossolini
Affiliation:
Children's Neuropsychiatrie Clinical Unit, Fano, Italy
D.P. Pace
Affiliation:
Department of Biology and Genetics, Medical School, University of Ancona, Italy
M. Burroni
Affiliation:
Children's Neuropsychiatrie Clinical Unit, Fano, Italy
R. Magistrelli
Affiliation:
Department of Biology and Genetics, Medical School, University of Ancona, Italy
F. Saccucci
Affiliation:
Department of Biology and Genetics, Medical School, University of Ancona, Italy
*
Istituto di Biologia e Genetica, Facoltà di Medicina, Università degli Studi, 60100 Ancona, Italy

Abstract

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A case of “G 2 Deletion Syndrome” is reported, based on concordant cytogenetic, clinical and dermatoglyphic findings. The definition of the syndrome, as associated with either a ring or a partially deleted chromosome 22, is discussed. The resulting interpretation favours the hypothesis of deletion of the short arm extending into the centromere.

Type
Short Notes
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 24 , Issue 3-4 , 07-10 1975 , pp. 311 - 313
Copyright
Copyright © The International Society for Twin Studies 1975

References

REFERENCES

Armendares, S., Buentello, L., Cant-Garza, J.M. 1971. Partial monosomy of a G-group chromosome (45,XY,G—/46,XY,Gr): report of a new case. Ann. Genet., 14: 7–12.Google Scholar
Blank, C.E., Lorber, J. 1969. A patient with 45.XX,G—/46,XX,Gr mosaicism. J. Med. Genet., 6: 220–223.Google Scholar
Lejeune, J., Berger, R., Réthoré, M.O., Archambault, L., Jérôme, H., Thieffry, S., Aicardi, J., Broyer, M., Lafourcade, J., Cruveiller, J., Turpin, R. 1964. Monosomie partielle pour un petit acrocentrique. C.R. Acad. Sci. (Paris), 259: 4187.Google Scholar
Magenis, R.E., Armendares, S., Hecht, F., Weleber, R.G., Overton, K. 1972. Identification by fluorescence of two G rings: (46,XY,21r) G deletion syndrome I and (46,XX,22r) G deletion syndrome II. Ann. Genet., 15: 265–266.Google Scholar
Nevin, N.C., MacLaverty, B., Campbell, W.A.B. 1971. A child with a ring G chromosome (46,XX,Gr). J. Med. Genet., 8: 231–234.CrossRefGoogle Scholar