| Evaluation of Chromosomal Analyses done on the Parents with Chromosomal Anomalous Children and Recurrent Abortion |
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Kyoung Sim Kim1, Kibok Kim1, Won Jin Kee2 |
1Department of Pediatrics, Kwangju Christian Hospital, Kwangju, Korea
2Department of Cytogenetics Laboratory, Kwangju Christian Hospital, Kwangju, Korea |
| 염색체 이상아의 부모와 반복 유산 부부에서의 세포유전학적 분석검토 |
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김경심1, 김기복1, 기원진2 |
1광주기독병원 소아과
2광주기독병원 세포유전학실 |
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| Abstract |
Purpose
: To gather reference data for better genetic counseling, we have evaluated the
outcomes of chromosomal analyses performed on the parents with chromosomal anomalous
children and recurrent abortion in this hospital for the last 20 years.
Methods
: Subjected to study were 108 parents (50 fathers & 58 mothers) who had children
with Down syndrome, other chromosomal and congenital anomalies, and those who had
experienced frequent miscarriages from March 1974 through August 1994. The Moorhead's
method
with G banding technique was used.
Results
:
1) Of those 108 parents studied, 52 (48.1%) had Down babies, 27 (25.0%) had frequent
miscarriages or stillbirths, 22 (20.4%) had children with congenital anomalies, and 7 (6.5%) had
other chromosomal anomalies.
2) Abnormal karyotypes were detected in 9 (8.3%): 6 among 52 parents with Down babies
(11.5%), 1 out of 7 parents whose children had other chromosomal abnormalities (14.2%), and 2
from 27 who had experienced miscarriages (7.4%).
3) Abnormal karyotypes of the parents who had Down babies were: balanced 14q21q
translocations in 2 mothers and 1 father, balanced 21q21q translocation in a carrier mother who
looked like Down's, and 14q+ in a normal-looking father. Among the parents having babies
with anomalies other than Down's, one mother who gave births to 2 babies, one with balanced
and the other with unbalanced translocation, was found to carry t(12;13) balanced translocation.
Two women who had experienced frequent miscarriages were found to have balanced 14q21q
translocation in one and XXq- in the other.
4) Abnormal karyotypes detected in 6 among those 52 parents with Down babies were: 3 out
of 38 whose babies had 21-trisomy (7.9%), 2 among 8 parents having babies with 14q21q
translocation (25%), and one from 6 parents whose babies had 21q21q translocation (16.7%).
5) Out of 375 Down children, 3 had Down sibling, with the overall recurrence rate of 0.8%,
and 2 out of 6 parents of those 3 families were revealed to be balanced translocation carriers.
Conclusion
: The high incidence of carrying chromosomal anomaly among the parents having
chromosomal anomalous children, but otherwise normal-looking, advocates it essential to have
the parents analyzed for their chromosomal make-ups in order to provide better genetic
counseling to those who gave birth to a baby with chromosomal abnormality or experienced
frequent miscarriages. |
| Key Words:
Chromosomal analyses, Parental karyotypes, Chromosomal anomaly, Carrier, Recurrent abortion |
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