Prenatal diagnosis of Pallister‐Killian syndrome in one twin

Pallister‐Killian syndrome (PKS) is often incidentally diagnosed prenatally due to ultrasound abnormalities or advanced maternal age. Severely shortened limbs could be the most outstanding abnormal observation in a fetus with PKS. PKS can be detected with the highest mosaic ratio by chromosomal micr...

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Detalles Bibliográficos
Autores principales: Li, Lin, Huang, Linhuan, Huang, Xuan, Lin, Shaobin, He, Zhiming, Fang, Qun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6099054/
https://www.ncbi.nlm.nih.gov/pubmed/30147884
http://dx.doi.org/10.1002/ccr3.1624
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author Li, Lin
Huang, Linhuan
Huang, Xuan
Lin, Shaobin
He, Zhiming
Fang, Qun
author_facet Li, Lin
Huang, Linhuan
Huang, Xuan
Lin, Shaobin
He, Zhiming
Fang, Qun
author_sort Li, Lin
collection PubMed
description Pallister‐Killian syndrome (PKS) is often incidentally diagnosed prenatally due to ultrasound abnormalities or advanced maternal age. Severely shortened limbs could be the most outstanding abnormal observation in a fetus with PKS. PKS can be detected with the highest mosaic ratio by chromosomal microarray analysis (CMA) on uncultured amniocytes prenatally.
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spelling pubmed-60990542018-08-24 Prenatal diagnosis of Pallister‐Killian syndrome in one twin Li, Lin Huang, Linhuan Huang, Xuan Lin, Shaobin He, Zhiming Fang, Qun Clin Case Rep Case Reports Pallister‐Killian syndrome (PKS) is often incidentally diagnosed prenatally due to ultrasound abnormalities or advanced maternal age. Severely shortened limbs could be the most outstanding abnormal observation in a fetus with PKS. PKS can be detected with the highest mosaic ratio by chromosomal microarray analysis (CMA) on uncultured amniocytes prenatally. John Wiley and Sons Inc. 2018-06-13 /pmc/articles/PMC6099054/ /pubmed/30147884 http://dx.doi.org/10.1002/ccr3.1624 Text en © 2018 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Li, Lin
Huang, Linhuan
Huang, Xuan
Lin, Shaobin
He, Zhiming
Fang, Qun
Prenatal diagnosis of Pallister‐Killian syndrome in one twin
title Prenatal diagnosis of Pallister‐Killian syndrome in one twin
title_full Prenatal diagnosis of Pallister‐Killian syndrome in one twin
title_fullStr Prenatal diagnosis of Pallister‐Killian syndrome in one twin
title_full_unstemmed Prenatal diagnosis of Pallister‐Killian syndrome in one twin
title_short Prenatal diagnosis of Pallister‐Killian syndrome in one twin
title_sort prenatal diagnosis of pallister‐killian syndrome in one twin
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6099054/
https://www.ncbi.nlm.nih.gov/pubmed/30147884
http://dx.doi.org/10.1002/ccr3.1624
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