Application of single nucleotide polymorphism microarray and fluorescence in situ hybridization analysis for the prenatal diagnosis of a case with Pallister-Killian syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 232-235, 2018.
Artigo
em Chinês
| WPRIM
| ID: wpr-687971
ABSTRACT
<p><b>OBJECTIVE</b>To explore the clinical and genetic characteristics of a case with Pallister-Killian syndrome (PKS).</p><p><b>METHODS</b>Chromosomal karyotype of umbilical cord blood sample derived from a 36-year-old pregnant woman was analyzed by G-banding analysis. After birth, the child was further analyzed with single nucleotide polymorphism microarray (SNP array) and fluorescence in situ hybridization (FISH) using 12pter/12qter probes.</p><p><b>RESULTS</b>G-banding analysis showed that the fetus has a karyotype of 46,XY [77]/47,XY,+mar [23]. After birth, Affymetrix CytoScan 750K array analysis showed a segmental tetrasomy of arr [hg19] 12p13.33p11.1(173 786 - 34 835 641)×4 and a 34.6 Mb repeat at 12p13.33p11.1 with in the neonate. FISH analysis confirmed that 39% of cells harbored the 12p tetrasomy.</p><p><b>CONCLUSION</b>Combined clinical examination, G-banded chromosomal karyotyping, FISH and microarray analysis can delineate the origin and fragments of small supernumerary marker chromosomes and diagnose PKS with precision.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Diagnóstico Pré-Natal
/
Cromossomos Humanos Par 12
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Bandeamento Cromossômico
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Hibridização in Situ Fluorescente
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Análise de Sequência com Séries de Oligonucleotídeos
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Transtornos Cromossômicos
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Polimorfismo de Nucleotídeo Único
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Diagnóstico
/
Cariotipagem
/
Métodos
Tipo de estudo:
Estudo diagnóstico
Limite:
Adulto
/
Feminino
/
Humanos
/
Gravidez
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2018
Tipo de documento:
Artigo
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