Case report: Novel phenotype in central 22q11.2 deletion syndrome

Patrick Dideum; Luis Rohena; Janet Berg; Candace Percival

doi:10.1002/ccr3.2870

Case report: Novel phenotype in central 22q11.2 deletion syndrome

Patrick Dideum
, Luis Rohena^*
, Janet Berg
, Candace Percival

^*Corresponding author for this work

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

Abstract

Deletions within 22q11.2 are one of the most common microdeletions studied. We report a case of central 22q11.2 deletion with abnormal dentition, a feature not previously described in this condition. Although the diagnosis of central 22q11.2 deletion syndrome requires genetic testing, we aim to facilitate clinical recognition, expediting diagnosis.

Original language	English
Pages (from-to)	3297-3302
Number of pages	6
Journal	Clinical Case Reports
Volume	8
Issue number	12
DOIs	https://doi.org/10.1002/ccr3.2870
State	Published - Dec 2020

Keywords

22q11.2 deletion
central 22q11 deletion
distal 22q11 deletion
failure to thrive
LCR22
microdeletion

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10.1002/ccr3.2870

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title = "Case report: Novel phenotype in central 22q11.2 deletion syndrome",

abstract = "Deletions within 22q11.2 are one of the most common microdeletions studied. We report a case of central 22q11.2 deletion with abnormal dentition, a feature not previously described in this condition. Although the diagnosis of central 22q11.2 deletion syndrome requires genetic testing, we aim to facilitate clinical recognition, expediting diagnosis.",

keywords = "22q11.2 deletion, central 22q11 deletion, distal 22q11 deletion, failure to thrive, LCR22, microdeletion",

author = "Patrick Dideum and Luis Rohena and Janet Berg and Candace Percival",

note = "Publisher Copyright: {\textcopyright} Published 2020. This article is a U.S. Government work and is in the public domain in the USA. Clinical Case Reports published by John Wiley \& Sons Ltd.",

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AU - Rohena, Luis

AU - Berg, Janet

AU - Percival, Candace

N1 - Publisher Copyright: © Published 2020. This article is a U.S. Government work and is in the public domain in the USA. Clinical Case Reports published by John Wiley & Sons Ltd.

PY - 2020/12

Y1 - 2020/12

N2 - Deletions within 22q11.2 are one of the most common microdeletions studied. We report a case of central 22q11.2 deletion with abnormal dentition, a feature not previously described in this condition. Although the diagnosis of central 22q11.2 deletion syndrome requires genetic testing, we aim to facilitate clinical recognition, expediting diagnosis.

AB - Deletions within 22q11.2 are one of the most common microdeletions studied. We report a case of central 22q11.2 deletion with abnormal dentition, a feature not previously described in this condition. Although the diagnosis of central 22q11.2 deletion syndrome requires genetic testing, we aim to facilitate clinical recognition, expediting diagnosis.

KW - 22q11.2 deletion

KW - central 22q11 deletion

KW - distal 22q11 deletion

KW - failure to thrive

KW - LCR22

KW - microdeletion

UR - https://www.scopus.com/pages/publications/85092629584

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DO - 10.1002/ccr3.2870

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JO - Clinical Case Reports

JF - Clinical Case Reports

IS - 12

ER -

Case report: Novel phenotype in central 22q11.2 deletion syndrome

Abstract

Keywords

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