Analysis of the small supernumerary marker chromosome in Turner syndrome with 45, X/46, X, + mar karyotype / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 461-464, 2009.
Article
in Zh
| WPRIM
| ID: wpr-349053
Responsible library:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To identify the origin and study the morphology of small supernumerary marker chromosome (sSMC) in Turner syndrome with 45, X/46, X, + mar karyotype.</p><p><b>METHODS</b>Using the conventional chromosome G-banding technique, 10 cases of Turner syndrome with 45, X/46, X, + mar chromosome karyotype were obtained, dual-color fluorescence in situ hybridization was applied to study the origin and morphology of the sSMC.</p><p><b>RESULTS</b>In the 10 cases of Turner syndrome with 45, X/46, X, + mar karyotype, the sSMC of 7 cases was derived from X chromosome [sSMC(X)], the sSMC of 2 cases was derived from Y chromosome [sSMC(Y)] and the remaining 1 case was derived from the autosome. There were 4 cases of ring(r) chromosomes and 3 of centric minutes (min) in the 7 sSMC (X) cases. In the 2 sSMC(Y), one case was dicentric (dic) and the other was centric minute (min). The sSMC originated from the autosome was a centric minute (min).</p><p><b>CONCLUSION</b>The origin of sSMC of Turner syndrome with 45, X/46, X, + mar karyotype was almost all from sex chromosomes, and rarely from autosomes. sSMC can exist as isodicentric, ring, or centric minute. The molecular cytogenetic features of the sSMC can provide useful information for genetic counseling, prenatal diagnosis and treatment of the Turner syndrome patients with a 45, X/46, X, + mar karyotype.</p>
Full text:
1
Index:
WPRIM
Main subject:
Turner Syndrome
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Genetic Markers
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Chromosome Banding
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In Situ Hybridization, Fluorescence
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Chromosomes, Human, X
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Chromosomes, Human, Y
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Genetics
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Karyotyping
Limits:
Adolescent
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Child
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Female
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Humans
Language:
Zh
Journal:
Chinese Journal of Medical Genetics
Year:
2009
Type:
Article