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Fertil Steril. 1991 Oct;56(4):646-52.

Segregation analysis and genetic counseling when both parents carry balanced chromosomal translocations.

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1
University of Tennessee, Memphis.

Abstract

OBJECTIVE:

To assess the risk of chromosomally abnormal offspring and discuss counseling approach when both parents carry balanced translocations.

DESIGN:

Theoretical segregation analysis is performed and use of empiric data is used in genetic counseling.

SETTING:

Patients are referred to Division of Reproductive Genetics at the University of Tennessee, Memphis.

PATIENTS, PARTICIPANTS:

The mother, heterozygous for reciprocal translocation 46,XX, rcp(7;13)(p21;q22) and father, heterozygous for Robertsonian translocation 45,XY,rob(13q;14q) were referred for genetic counseling concerning risks of chromosomally abnormal offspring.

INTERVENTIONS:

Segregation analysis, genetic counseling, and chorionic villus sampling.

MAIN OUTCOME MEASURE(S):

A cumulative risk was derived to use for counseling purposes. Cytogenetics using GTG-banding was performed on cultured chorionic villus cells.

RESULTS:

Theoretical risk of this couple having chromosomally abnormal offspring was 40.5%. On the basis of empirical data and risk factors inherent in the specific translocations, the maternal contribution at midtrimester was 3.5%; the paternal contribution was 1% to 2%. The sum of these risks was used in counseling.

CONCLUSIONS:

The fetus was found to be 46,XY,rcp(7;13)(p21;q22).

PMID:
1915938
[Indexed for MEDLINE]
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