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

340 Downloads (Pure)

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

Access to Document

10.1002/ccr3.1285Licence: Creative Commons: Attribution (CC BY)

Morton_et_al_The_first_antenatal_diagnosis_Clinical_Case_Reports_2017Final published version, 232 KBLicence: Creative Commons: Attribution (CC BY)

http://onlinelibrary.wiley.com/doi/10.1002/ccr3.1285/fullLicence: Creative Commons: Attribution (CC BY)

Cite this

@article{bb1a308ec62e4395a6876eb63376eb42,

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.",

keywords = "ANKRD11 , KBG syndrome , prenatal diagnosis",

author = "\{Hodgetts Morton\}, Victoria and Elizabeth Quinlan-jones and Natasha Butts and Denise Williams and Sue Hamilton and Tamas Marton and Katie Morris",

year = "2018",

month = jan,

day = "1",

doi = "10.1002/ccr3.1285",

language = "English",

volume = "6",

pages = "189--191",

journal = "Clinical Case Reports",

issn = "2050-0904",

publisher = "Wiley",

number = "1",

}

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

TY - JOUR

T1 - The first antenatal diagnosis of KBG syndrome:

T2 - a microdeletion at chromosome 16q24.2q24.3 containing multiple genes including ANKRD11 associated with the disorder

AU - Hodgetts Morton, Victoria

AU - Quinlan-jones, Elizabeth

AU - Butts, Natasha

AU - Williams, Denise

AU - Hamilton, Sue

AU - Marton, Tamas

AU - Morris, Katie

PY - 2018/1/1

Y1 - 2018/1/1

N2 - 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.

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.

KW - ANKRD11

KW - KBG syndrome

KW - prenatal diagnosis

U2 - 10.1002/ccr3.1285

DO - 10.1002/ccr3.1285

M3 - Article

SN - 2050-0904

VL - 6

SP - 189

EP - 191

JO - Clinical Case Reports

JF - Clinical Case Reports

IS - 1

ER -

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

Access to Document

Fingerprint

Cite this