Two reciprocal translocations t(9p+;13q-) and t(13q-;21q+): a study of the families.

Human genetics ·Vol. 54 ·No. 1 ·1980-00-00 ·Pages 7-11

Prieto F, Badia L, Asensi F, Roques V

Abstract

Two reciprocal balanced translocations 46,XY,t(9;13)(p23;q21) and 46,XX,t(13;21)(q21;q21), identified by RFA-and GTG-banding, are presented along with a complete study of both families. In the second case a 3 : 1 segregation is associated with an unbalanced 2 : 2 segregation, as demonstrated in the two surviving sons: one with interchange trisomy 21 and the other with partial trisomy 13 and partial monosomy 21. This suggests that the presence of this translocation, and possibly of other translocations involving morphologically similar chromosomes, could signify a high risk of having chromosomal disorders in offspring.

MeSH Terms

Abnormalities, Multiple/genetics Adult Chromosome Banding Chromosomes, Human, 13-15/ultrastructure Chromosomes, Human, 21-22 and Y/ultrastructure Chromosomes, Human, 6-12 and X/ultrastructure Dermatoglyphics Female Humans Infant, Newborn Karyotyping Male Pedigree Phenotype Translocation, Genetic

Authors & Affiliations

4 authors, click to expand affiliations / ORCID

Prieto F

Badia L

Asensi F

Roques V

References (15)

15 references, click to expand

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Article Info

Journal

Human genetics

Abbr.

Hum Genet

ISSN

0340-6717

DOI

10.1007/BF00279042

Published

1980-00-00

Pages

7-11

Language

English

Region

Germany

NLM ID

7613873

Subset

External Links

PubMed source DOI: 10.1007/BF00279042 View journal details

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Two reciprocal translocations t(9p+;13q-) and t(13q-;21q+): a study of the families.

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