Prenatal diagnosis of a tetrasomy 18p case using BACs-on-Beads technology and single nucleotide polymorphism array / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 857-860, 2017.
Article
in Chinese
| WPRIM
| ID: wpr-344160
ABSTRACT
<p><b>OBJECTIVE</b>To determine the origin of a supernumerary small marker chromosome found in a fetus using prenatal BACs-on-Beads (BoBs) and single nucleotide polymorphism array (SNP-array) assays.</p><p><b>METHODS</b>The fetal sample was subjected to chromosomal karyotyping and BoBs analysis, and the results were validated with genome-wide scanning using a SNP microarray.</p><p><b>RESULTS</b>The fetus was found to have a 47,XX,+mar karyotype. BoBs analysis indicated that there was an amplification between 18p11.32 and 18p11.21, which was verified by the SNP-array assay as a 18.3 Mb duplication occurring at 18p11.32q11.1.</p><p><b>CONCLUSION</b>The karyotype of the fetus was determined as 47,XX,+der18(18p11.32?18q11.118q11.1?18p11.32). The duplication has involved important genes including SMCHD1, LPIN2 and TGIF1, which may result in severe malformations in the fetus.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Prenatal Diagnosis
/
Chromosomes, Human, Pair 18
/
Polymorphism, Single Nucleotide
/
Chromosomes, Artificial, Bacterial
/
Microarray Analysis
/
Genetics
/
Karyotyping
/
Aneuploidy
/
Methods
Type of study:
Diagnostic study
Limits:
Adult
/
Female
/
Humans
/
Pregnancy
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2017
Type:
Article
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