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A 2.3Mb deletion of 17q24.2-q24.3 associated with ‘Carney Complex plus’

A 2.3Mb deletion of 17q24.2-q24.3 associated with ‘Carney Complex plus’
A 2.3Mb deletion of 17q24.2-q24.3 associated with ‘Carney Complex plus’
We present a 12-year-old with a de novo interstitial deletion of approximately 2.3 Mb in chromosome band 17q24-2eq24.3, which was identified by array CGH. The most characteristic features in this case are posterior laryngeal cleft and the presence of numerous freckles and lentigines in childhood. Growth restriction, microcephaly and moderate mental retardation are also prominent features but are frequently seen with other chromosomal anomalies. The microdeletion causes haploinsufficiency of PRKAR1A (protein kinase, cAMP-dependent, regulatory 1?), which is known to cause Carney Complex but this diagnosis alone does not account for all of her problems and she therefore has ‘Carney Complex plus’. This report illustrates the practical benefits associated with a clear cytogenetic diagnosis, as regular endocrinological and cardiac screening is required.
interstitial deletion of 17q, PRKAR1A, Carney Complex, mental retardation/developmental delay, posterior laryngeal clef, IUGR, syndactyly 2-3 of toes
1769-7212
672-678
Blyth, Moira
705de667-3ac5-4ec0-b4e6-316553bdfb38
Huang, Shuwen
44f28908-02b8-46d7-822c-e6a9e7981723
Maloney, Viv
41016098-bf77-434e-b8ea-beec46340edb
Crolla, John A.
c5f23751-8de9-4a55-9cc5-ca2fb635769c
Temple, I.Karen
d63e7c66-9fb0-46c8-855d-ee2607e6c226
Blyth, Moira
705de667-3ac5-4ec0-b4e6-316553bdfb38
Huang, Shuwen
44f28908-02b8-46d7-822c-e6a9e7981723
Maloney, Viv
41016098-bf77-434e-b8ea-beec46340edb
Crolla, John A.
c5f23751-8de9-4a55-9cc5-ca2fb635769c
Temple, I.Karen
d63e7c66-9fb0-46c8-855d-ee2607e6c226

Blyth, Moira, Huang, Shuwen, Maloney, Viv, Crolla, John A. and Temple, I.Karen (2008) A 2.3Mb deletion of 17q24.2-q24.3 associated with ‘Carney Complex plus’. European Journal of Medical Genetics, 51 (6), 672-678. (doi:10.1016/ejmg.2008.09.002).

Record type: Article

Abstract

We present a 12-year-old with a de novo interstitial deletion of approximately 2.3 Mb in chromosome band 17q24-2eq24.3, which was identified by array CGH. The most characteristic features in this case are posterior laryngeal cleft and the presence of numerous freckles and lentigines in childhood. Growth restriction, microcephaly and moderate mental retardation are also prominent features but are frequently seen with other chromosomal anomalies. The microdeletion causes haploinsufficiency of PRKAR1A (protein kinase, cAMP-dependent, regulatory 1?), which is known to cause Carney Complex but this diagnosis alone does not account for all of her problems and she therefore has ‘Carney Complex plus’. This report illustrates the practical benefits associated with a clear cytogenetic diagnosis, as regular endocrinological and cardiac screening is required.

Full text not available from this repository.

More information

Published date: November 2008
Keywords: interstitial deletion of 17q, PRKAR1A, Carney Complex, mental retardation/developmental delay, posterior laryngeal clef, IUGR, syndactyly 2-3 of toes

Identifiers

Local EPrints ID: 69743
URI: https://eprints.soton.ac.uk/id/eprint/69743
ISSN: 1769-7212
PURE UUID: f815dc19-484f-49ae-83f8-57c7657698fa
ORCID for I.Karen Temple: ORCID iD orcid.org/0000-0002-6045-1781

Catalogue record

Date deposited: 07 Dec 2009
Last modified: 01 Jun 2019 00:36

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