Genetic analysis of a fetus with partial 1q monosomy and partial 17q trisomy / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 340-343, 2016.
Article
in Chinese
| WPRIM (Western Pacific)
| ID: wpr-247677
Responsible library:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To analyze a fetus with abnormal sonographic features and correlated its genotype with phenotype.</p><p><b>METHODS</b>G-banding analysis, single nucleotide polymorphism array (SNP array) and fluorescence in situ hybridization (FISH) were performed for the fetus. Karyotyping and FISH were also carried out for the parents.</p><p><b>RESULTS</b>SNP array detected a 4.4 Mb deletion at 1q44 and a 10.4 Mb duplication at 17q24.3q25.3 in the fetus. Based on the results of SNP array and FISH analysis, the father was diagnosed with a cryptic t(1;17)(q44;q24.3) translocation. The fetus has inherited a der(1)t(1;17)(q44;q24.3) from its father.</p><p><b>CONCLUSION</b>The 1q44 deletion and 17q24.3q25.3 duplication may have contributed to the abnormal sonographic features presented by the fetus.</p>
Full text:
Available
Database:
WPRIM (Western Pacific)
Main subject:
Translocation, Genetic
/
Trisomy
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Chromosomes, Human, Pair 1
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Chromosomes, Human, Pair 17
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Ultrasonography, Prenatal
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Chromosome Deletion
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In Situ Hybridization, Fluorescence
/
Polymorphism, Single Nucleotide
/
Genetics
Type of study:
Diagnostic study
Limits:
Adult
/
Female
/
Humans
/
Pregnancy
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2016
Document type:
Article