Prevalence of Balanced Chromosomal Translocations in Couples with Abnormal Reproductive Outcomes and Prenatal Cytogenetic Diagnosis in the Carriers / 대한불임학회지
Korean Journal of Fertility and Sterility
;
: 393-398, 1997.
Article
in Korean
| WPRIM
| ID: wpr-168336
ABSTRACT
Cytogenetic analysis was performed in 1321 couples and 141 women with history of abnormal reproductive outcome during 1988-1996. The use of high resolution banding technique and fluorescence in situ hybridization (FISH) in the chromosome analysis has made the precise evaluation of chromosome aberrations. The prevalence of balanced chromosomal translocation carriers were 3.74% (104/2783 patients). 70 cases (2.52%) were reciprocal translocation carriers and 34 (1.22%) had Robertsonian translocations. Chromosome aberrations were more frequent in women (73 cases) than in men (31 cases). No phenotypical abnormalities were found in all carriers, but they experienced abnormal reproductive outcomes such as recurrent spontaneous abortions, anomalous offsprings or infertility problem. Prenatal diagnosis was carried out on 36 subsequent pregnancies in balanced translocation carriers. The fetal karyotypes showed that 12 cases (33%) were normal, 22 (61%) were balanced translocations, and two (6%) were unbalanced translocations. It is concluded that the prevalence of balanced chromosomal translocations in patients with abnormal reproductive outcome is higher than that of the normal population. Most of the fetal samples showed normal karyotypes or balanced translocations. Although the incidence of chromosomal imbalance in the fetuses was relatively low in prenatal diagnosis, individuals with balanced translocations are predisposed to abnormal offspring with partial trisomy or monosomy. Therefore we recommend that genetic counselling and cytogenetic prenatal diagnosis for translocation carriers have to be offered to prevent recurrent chromosomal abnormal babies.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Prenatal Diagnosis
/
Translocation, Genetic
/
Trisomy
/
Abortion, Spontaneous
/
Family Characteristics
/
Incidence
/
Prevalence
/
Chromosome Aberrations
/
In Situ Hybridization
/
Cytogenetic Analysis
Type of study:
Diagnostic study
/
Incidence study
/
Prevalence study
/
Prognostic study
/
Risk factors
Limits:
Female
/
Humans
/
Male
/
Pregnancy
Language:
Korean
Journal:
Korean Journal of Fertility and Sterility
Year:
1997
Type:
Article
Similar
MEDLINE
...
LILACS
LIS