Pallister-Killian syndrome presenting through nuchal translucency screening for trisomy 21

K Langford; S Hodgson; M Seller; D Maxwell

doi:10.1002/1097-0223(200008)20:8<670::AID-PD885>3.0.CO;2-U

Pallister-Killian syndrome presenting through nuchal translucency screening for trisomy 21

K Langford, S Hodgson, M Seller, D Maxwell

Medical & Molecular Genetics

Research output: Contribution to journal › Article › peer-review

30 Citations (Scopus)

Abstract

Pallister-Killian syndrome (tetrasomy 12p) is an uncommon aneuploidy, which may present in the prenatal period with an ultrasonographically detected fetal abnormality or following karyotyping for maternal age. We report a case that presented with increased nuchal translucency and hydrops at a first trimester screening scan for trisomy 21. Copyright (C) 2000 John Wiley & Sons, Ltd.

Original language	English
Pages (from-to)	670 - 672
Number of pages	3
Journal	Prenatal Diagnosis
Volume	20
Issue number	8
DOIs	https://doi.org/10.1002/1097-0223(200008)20:8<670::AID-PD885>3.0.CO;2-U
Publication status	Published - 2000

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10.1002/1097-0223(200008)20:8<670::AID-PD885>3.0.CO;2-U

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title = "Pallister-Killian syndrome presenting through nuchal translucency screening for trisomy 21",

abstract = "Pallister-Killian syndrome (tetrasomy 12p) is an uncommon aneuploidy, which may present in the prenatal period with an ultrasonographically detected fetal abnormality or following karyotyping for maternal age. We report a case that presented with increased nuchal translucency and hydrops at a first trimester screening scan for trisomy 21. Copyright (C) 2000 John Wiley & Sons, Ltd.",

author = "K Langford and S Hodgson and M Seller and D Maxwell",

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AU - Maxwell, D

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AB - Pallister-Killian syndrome (tetrasomy 12p) is an uncommon aneuploidy, which may present in the prenatal period with an ultrasonographically detected fetal abnormality or following karyotyping for maternal age. We report a case that presented with increased nuchal translucency and hydrops at a first trimester screening scan for trisomy 21. Copyright (C) 2000 John Wiley & Sons, Ltd.

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Pallister-Killian syndrome presenting through nuchal translucency screening for trisomy 21

Abstract

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