Korean J Perinatol.  2002 Jun;13(2):128-134.

A Study on the Translocation of Human Chromosome

• Baek EK
• Lee YS
• Park JK
• Kim JH
• Jeong YJ
• Kim KS
• Song CH
• Oh BC
• Jin SJ
• Kim JD

Abstract

OBJECTIVE
The aim of this study was to evaluate the relation between the chromosomal translocation and the outcome of pregnancy.
METHODS
Between 1989 and 2001, 26 translocation carriers have been detected in our center and Jin Obstetrics and Gynecology Clinic. The subjects consisted of 26 couples that included 14 reciprocal translocation carriers and 12 Robertsonian translocation carriers. The balanced translocation carriers were analyzed retrospectively.
RESULTS
The most frequent indication for parental chromosomal examination was repeated abortions or fetal death(57.7%). In contrast to couples with reciprocal translocations, a high excess of female over male carriers was found in the group of Robertsonian translocations. The rates of miscarriages (68.0%) in prior pregnancies were significantly higher than the birth rates of morphologically normal newborns(16.0%). Prenatal chromosomal examination in subsequent pregnancies revealed that 24.0% of the fetuses showed normal karyotypes, 56.0% of the fetuses showed balanced translocations and 20.0% of the fetuses showed a chromosomal imbalance. The unbalanced karyotypes consisted of three trisomies, one partial trisomy and one duplication. There was no case of partial monosomy in this study.
CONCLUSIONS
The risk of unbalanced chromosome abnormalities was greater in our study than the empirically known risk. Prenatal examination is always indicated in carriers of any type of translocation.

Keyword

Translocation; Prenatal diagnosis; Outcome

MeSH Terms

Abortion, Spontaneous
Birth Rate
Chromosome Aberrations
Chromosome Deletion
Chromosomes, Human*
Family Characteristics
Female
Fetus
Gynecology
Humans
Humans*
Karyotype
Male
Obstetrics
Parents
Pregnancy
Prenatal Diagnosis
Retrospective Studies
Translocation, Genetic
Trisomy