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

We present a 12-year-old with ade novo interstitial deletion of approximately 2.3 Mb in chromosome band 17q24.2–q24.3, 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 1α), 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.