Prenatal diagnosis of a Pallister-Killian syndrome case through analysis of a supernumerary chromosome using single nucleotide polymorphism array / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 682-685, 2016.
Article
in Zh
| WPRIM
| ID: wpr-345380
Responsible library:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To explore the origin of a supernumerary small marker chromosome (sSMC) in a fetus, and to assess the feasibility of single nucleotide polymorphism array (SNP-array) for prenatal diagnosis.</p><p><b>METHODS</b>The fetal sample was subjected to karyotyping analysis. The identified sSMC was subjected to genome-wide scan using a SNP microarray chip. The results were validated with fluorescence in situ hybridization (FISH).</p><p><b>RESULTS</b>The karyotype of the fetus was determined as 47,XX,+mar, which was verified by SNP microarray chip analysis as a 34.6 Mb duplication in 12p13.33p11.1. FISH analysis confirmed that the sSMC has originated from chromosome 12p.</p><p><b>CONCLUSION</b>The karyotype of the fetus was determined as 47,XX,+i(12)(p10). Tetrasomy 12p is reported to be a marker for Pallister-Killian syndrome, which may result in multi-system anomalies. SNP-array analysis can simultaneously detect microdeletions and microduplications, which may be used for prenatal diagnosis of suspected cases.</p>
Full text:
1
Index:
WPRIM
Main subject:
Congenital Abnormalities
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Chromosomes, Human, Pair 12
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Diagnostic Imaging
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Embryology
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Ultrasonography, Prenatal
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Chromosome Aberrations
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Chromosome Banding
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In Situ Hybridization, Fluorescence
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Oligonucleotide Array Sequence Analysis
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Chromosome Disorders
Type of study:
Diagnostic_studies
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Prognostic_studies
Limits:
Adult
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Female
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Humans
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Pregnancy
Language:
Zh
Journal:
Chinese Journal of Medical Genetics
Year:
2016
Type:
Article