Journal of Developmental Medicine(Electronic Version)  2013, Vol. 1 Issue (2): 104-105 DOI: |
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| Chromosomal analysis in 248
patients with
Down’s syndrome and
parental karyotyping |
| L，地GAO Rui-hong,01N Lei
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The lab of Obstitrics and Gynicol,Xijing Hospital,The 4th Army Medical Universitz,Xi：an
710032,
China
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Abstract 【Abstract】Objectives
The
study was designed to analyze chromosomal abnormalities in peripheral
blood of
patients
with Down’Sa
syndrome suspected by clinic，who
visited
Xijing hospital
from Jan．201 1 tO
Dec．201 2．Methods
Lymphocytes
were cultivated in
peripheral
blood in nutritive medium，and the
karyotype
was
analyzed using
G band．Results 248
examples
were
diagnosed with Down’S syndrome，including 234
cases of standard
type，1
2 cases of translocation
type，and
2 cases of mosaic
type．The chromosomal analysis
in
parental peripheral blood was applied，including both parents of 161 patients and fathers or mothers of
47
patients．The
result showed that the
percentage
of
polymorphism，translocation，pericentric
inversion and
dicentric chromosome were 10．3％，4．3％，1．1％and
0．8％，respectively．Conclusion
New mutation is the major
cause of own’S
syndrome．
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Published: 07 September 2019
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