Summary
Partial trisomy 3q was observed in a newborn female with multiple malformations, who died in the first month of life. A balanced translocation t(3q−; 15p+) was present in the mother and in other family members. The correlation between the cytogenetical and the clinical aspects is briefly discussed.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Allderdice P. W., Browne N., Murphy D. P.: Chromosome 3 Duplication q21-qter Deletion p25-pter Syndrome in Children of Carriers of a Pericentric Inversion inv(3)(p25q21) — Amer. J. hum. Genet.27, 699, 1975.
Boue J., Hirshorn K., Lucas M., Moszer M., Bach C. H.: Aneusomies de recombinaison. Conséquences d’une inversion péricentrique d’un chromosome 3 paternel — Ann. Pédiat.21, 567, 1974.
Carr D. H., Gedeor M. M.: Four Familial Translocations Ascertained through Spontaneous Abortions — Hum. Genet.31, 93, 1976.
Gropp A., Marsch W., Brodehl J.: Structural (Translocation) Heterozygosity over Three Subsequent Generations in Man — Nature (Lond.)207, 374, 1965.
Herrmann J., Ruffle T., Meisner L. E., Viseskul C., Gilbert E. F.: The Partial Trisomy 3q Syndrome — In: Birth Defects Conf., Newport Beach, Calif., National Foundation-March of Dimes, 1974; p. 129.
Jacobs P. A., Buckton K. E., Cunningham C., Newton M.: An Analysis of the Break Points of Structural Rearrangements in Man — J. med. Genet.11, 50, 1974.
Patau K., Opitz J. M., Dewey W. J.: A Multiple Congenital Anomaly in Man Presumably Caused by a Minute Deletion in Chromosome 3 — Science146, 129, 1964.
Rethoré M. O., Lejeune J., Carpentier S., Prieur M., Dutrillaux B., Seringe P., Rossier A., Job J. C.: Trisomy for the Distal Portion of the Short Arm of Chromosome No. 3 in Three Sibs. First Instance of Chromosomal Insertion: ins(7;3)(q31;p21p26) — Ann. Génét.15, 159, 1972.
Surana R. B., Braudo M. E., Conen P. E., Slade R. H.: 46,XY,t(3;22)(p2;q13) Resulting in Partial Trisomy for the Short Arm of Chromosome 3 — Clin. Genet.11, 201, 1977.
Wilson J. A.: A Prospective Cytogenetic Study of Recurrent Abortion — J. med. Genet.6, 5, 1969.
Author information
Authors and Affiliations
Additional information
This work at Torino was supported partly by theCNR ‘Centro Studio Immunogenetica ed Istocompatibilità’, and partly by theMinistero della Pubblica Istruzione ex art. 286, cap. 8551, es. 76.
Rights and permissions
About this article
Cite this article
De Marchi, M., Zuffardi, O., Carozzi, F. et al. Partial trisomy 3q in a newborn female. La Ricerca Clin. Lab. 7, 225–232 (1977). https://doi.org/10.1007/BF02881818
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF02881818