Prenatal diagnosis of a case of Pallister-Killian syndrome.
- VernacularTitle:一例Pallister-Killian综合征的产前诊断
- Author:
Hui XI
1
;
Hua WANG
;
Zhenjun JIA
;
Yuchun ZHOU
;
Hong YU
;
Jing LIU
;
Lingqian WU
Author Information
- Publication Type:Journal Article
- MeSH: Chromosome Banding; Chromosome Disorders; diagnosis; genetics; Chromosomes, Human, Pair 12; genetics; Female; Humans; In Situ Hybridization, Fluorescence; Karyotyping; Polymorphism, Single Nucleotide; Pregnancy; Prenatal Diagnosis
- From: Chinese Journal of Medical Genetics 2015;32(1):73-76
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo study the clinical and genetic characteristics of Pallister-Killian syndrome and improve the diagnosis for this rare chromosomal disease.
METHODSStandard G-banding was carried out for the patient and his parents. Single nucleotide polymorphism array (SNP array) for copy number detection was applied to identify chromosome microdeletion or microduplication. Interphase fluorescence in situ hybridization (FISH) and cytogenetic analyses of fibroblast cells were performed based on the Results of array.
RESULTSThe patient's G-banded karyotype has turned out to be 46,XY, whilst his parents were both normal. A duplication of the whole short arm of chromosome 12 was detected by SNP array in the child. The result of interphase FISH performed on interphase chromosomes derived from peripheral blood cells was nucish (RP11-104 b5, a19 RP11-956) × 4 [19/100］, whilst the karyotype of fibroblast cells was 47,XY,+i(12) (p10 [44]/46, XY[56].
CONCLUSIONBy combining with clinical characteristics, SNP array, skin fibroblasts karyotype analysis and FISH can diagnose Pallister-Killian syndrome effectively.
