The first antenatal diagnosis of KBG syndrome:: a microdeletion at chromosome 16q24.2q24.3 containing multiple genes including ANKRD11 associated with the disorder

Victoria Hodgetts Morton; Elizabeth Quinlan-jones; Natasha Butts; Denise Williams; Sue Hamilton; Tamas Marton; Katie Morris

doi:10.1002/ccr3.1285

The first antenatal diagnosis of KBG syndrome: a microdeletion at chromosome 16q24.2q24.3 containing multiple genes including ANKRD11 associated with the disorder

Victoria Hodgetts Morton, Elizabeth Quinlan-jones, Natasha Butts, Denise Williams, Sue Hamilton, Tamas Marton, Katie Morris

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

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Abstract

The loss of ANKRD11 gene confirms the diagnosis of KBG syndrome but does not elucidate the pediatric phenotype providing a counseling challenge. With the expansion of prenatal diagnosis, and the potential to perform whole-exome sequencing antenatally, we must describe the genetic abnormalities, antenatal ultrasound findings, and phenotype concurrently to facilitate counseling.

Original language	English
Pages (from-to)	189-191
Journal	Clinical Case Reports
Volume	6
Issue number	1
Early online date	11 Dec 2017
DOIs	https://doi.org/10.1002/ccr3.1285
Publication status	Published - 1 Jan 2018

Keywords

ANKRD11
KBG syndrome
prenatal diagnosis

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Cite this

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title = "The first antenatal diagnosis of KBG syndrome:: a microdeletion at chromosome 16q24.2q24.3 containing multiple genes including ANKRD11 associated with the disorder",

abstract = "The loss of ANKRD11 gene confirms the diagnosis of KBG syndrome but does not elucidate the pediatric phenotype providing a counseling challenge. With the expansion of prenatal diagnosis, and the potential to perform whole-exome sequencing antenatally, we must describe the genetic abnormalities, antenatal ultrasound findings, and phenotype concurrently to facilitate counseling.",

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The first antenatal diagnosis of KBG syndrome: a microdeletion at chromosome 16q24.2q24.3 containing multiple genes including ANKRD11 associated with the disorder. / Hodgetts Morton, Victoria; Quinlan-jones, Elizabeth; Butts, Natasha et al.
In: Clinical Case Reports, Vol. 6, No. 1, 01.01.2018, p. 189-191.

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

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AU - Hamilton, Sue

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AB - The loss of ANKRD11 gene confirms the diagnosis of KBG syndrome but does not elucidate the pediatric phenotype providing a counseling challenge. With the expansion of prenatal diagnosis, and the potential to perform whole-exome sequencing antenatally, we must describe the genetic abnormalities, antenatal ultrasound findings, and phenotype concurrently to facilitate counseling.

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The first antenatal diagnosis of KBG syndrome: a microdeletion at chromosome 16q24.2q24.3 containing multiple genes including ANKRD11 associated with the disorder

Abstract

Keywords

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