Prenatal diagnosis of a fetus with Pallister-Killian syndrome with combined cytogenetic and molecular methods / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 1276-1279, 2020.
Artigo
em Chinês
| WPRIM
| ID: wpr-879485
ABSTRACT
OBJECTIVE@#To carry out prenatal diagnosis for a fetus with Pallister-killian syndrome (PKS).@*METHODS@#The fetus was found to have limb malformations at 23rd gestational week. With informed consent from its parents, amniotic fluid sample was taken from the fetus and subjected to chromosomal karyotyping, chromosomal microarray analysis (CMA) and fluorescence in situ hybridization (FISH) assay.@*RESULTS@#G-banding analysis suggested the fetus has a mos47,XY,+mar[55]/46,XY[10] karyotype. CMA analysis of the cultured amniocytes with CytoScan 750K microarray revealed a segmental tetrasomy duplication of 12p13.33p11.1. FISH confirmed a 70% mosaicism of tetrasomy 12p in the metaphase amniocytes with 12pter/12qter probes.@*CONCLUSION@#Combined use of G-banding karyotyping, CMA and FISH analysis has enabled diagnosis of PKS in the fetus. Although short limb is a common feature of PKS, unequal femur length has not been reported previously, which has expanded the spectrum of PKS-associated limb abnormalities.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Diagnóstico Pré-Natal
/
Cromossomos Humanos Par 12
/
Hibridização in Situ Fluorescente
/
Transtornos Cromossômicos
/
Feto
/
Mosaicismo
Tipo de estudo:
Estudo diagnóstico
Limite:
Feminino
/
Humanos
/
Gravidez
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2020
Tipo de documento:
Artigo
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