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

Owen Phillips, A. T. Tharapel, L. P. Shulman, J. L. Simpson, S. Elias

Research output: Contribution to journalArticle

7 Citations (Scopus)

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).

Original languageEnglish (US)
Pages (from-to)646-652
Number of pages7
JournalFertility and Sterility
Volume56
Issue number4
DOIs
StatePublished - Jan 1 1991
Externally publishedYes

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Genetic Translocation
Genetic Counseling
Parents
Counseling
Mothers
Chorionic Villi Sampling
Chorionic Villi
Second Pregnancy Trimester
Cytogenetics
Fathers
Fetus
Outcome Assessment (Health Care)

All Science Journal Classification (ASJC) codes

  • Reproductive Medicine
  • Obstetrics and Gynecology

Cite this

Segregation analysis and genetic counseling when both parents carry balanced chromosomal translocations. / Phillips, Owen; Tharapel, A. T.; Shulman, L. P.; Simpson, J. L.; Elias, S.

In: Fertility and Sterility, Vol. 56, No. 4, 01.01.1991, p. 646-652.

Research output: Contribution to journalArticle

Phillips, Owen ; Tharapel, A. T. ; Shulman, L. P. ; Simpson, J. L. ; Elias, S. / Segregation analysis and genetic counseling when both parents carry balanced chromosomal translocations. In: Fertility and Sterility. 1991 ; Vol. 56, No. 4. pp. 646-652.
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