Prenatal Diagnosis of Pallister-Killian Syndrome Associated with Pulmonary Stenosis and Right Ventricular Dilatation / 대한진단검사의학회지
The Korean Journal of Laboratory Medicine
; : 366-370, 2009.
Article
in En
| WPRIM
| ID: wpr-66132
Responsible library:
WPRO
ABSTRACT
Pallister-Killian syndrome (PKS) is a rare disorder characterized cytogenetically by tetrasomy 12p for isochromosome of the short arm of chromosome 12. PKS is diagnosed by prenatal genetic analysis through chorionic villous sampling, genetic amniocentesis, and cordocentesis, or by chromosomal analysis of skin fibroblasts, but is not usually detected by chromosomal analysis of peripheral blood cells. Herein, we report a case of a gravida at 23 weeks gestation with pulmonary stenosis and right ventricular dilation of the heart which were detected by sonography. Fluorescence in situ hybridization and a multicolor banding technique were performed to verify the diagnosis as 47,XX, +mar.ish i(12)(p10)(TEL++)[16]/46,XX[4], and an autopsy confirmed the cardiac anomalies detected on antenatal sonography.
Key words
Full text:
1
Index:
WPRIM
Main subject:
Prenatal Diagnosis
/
Pulmonary Valve Stenosis
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Chromosomes, Human, Pair 12
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Chromosome Aberrations
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Gestational Age
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In Situ Hybridization, Fluorescence
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Ventricular Dysfunction, Right
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Fetal Diseases
/
Karyotyping
Type of study:
Diagnostic_studies
Limits:
Adult
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Female
/
Humans
/
Pregnancy
Language:
En
Journal:
The Korean Journal of Laboratory Medicine
Year:
2009
Type:
Article