Abstract
7q11.23 Microduplication (dup7q11.23) syndrome is a rare autosomal dominant disorder due to a recurring 1.5 to 1.8 Mb duplication of the Williams–Beuren Syndrome critical region. Dup7q11.23 has been associated with several neuro-behavioral characteristics such as low cognitive and adaptive functioning, expressive language impairment, anxiety problems and autistic features. In the present study, we analyze the clinical features of ten individuals in which array-CGH detected dup7q11.23, spanning from 1.4 to 2.1 Mb. The clinical characteristics associated with dup7q11.23 are discussed with respect to its reciprocal deletion. Consistent with previous studies, we confirm that individuals with dup7q11.23 syndrome do not have a homogeneous clinical profile, although some recurring dysmorphic features were found, including macrocephaly, prominent forehead, elongated palpebral fissures, thin lip vermilion and microstomia. Minor congenital malformations include patent ductus arteriosus, cryptorchidism and pes planus. A common finding is hypotonia and joint laxity, resulting in mild motor delay. Neuropsychological and psychodiagnostic assessment confirm that mild cognitive impairment, expressive language deficits and anxiety are recurring neurobehavioral features. New insights into adaptive, psychopathological and neurodevelopmental profiles are discussed.
Highlights
Interstitial deletions of 7q11.23 cause Williams–Beuren Syndrome (WBS) (MIM 194050).Most deletions are de novo, while inherited deletions are very rare [1,2]
The present study extends the available data on genotype–phenotype correlations in individuals with dup7q11.23, and provides new insight into the diagnosis, management and treatment of affected individuals
We confirm that facial dysmorphisms are not characteristic, some recurring features, including macrocephaly, prominent forehead, elongated palpebral fissures, prominent nose, thin lip vermilion and microstomia, could provide some clues to diagnosis
Summary
Interstitial deletions of 7q11.23 cause Williams–Beuren Syndrome (WBS) (MIM 194050). Most deletions are de novo, while inherited deletions are very rare [1,2]. Some investigations have reported that anxiety problems occur in 16.5% to 82.2% of WBS individuals [26,27]. Few studies have investigated the neurobehavioral profile of children with dup7q11.23 syndrome [8,9,29,30]. Psychopathological features have been investigated in past research, reporting that most children with dup7q11.23 syndrome meet the criteria for diagnosis of specific phobias and/or social anxiety [9,29]. Autism spectrum disorder (ASD) [9,30] has been considered a relatively common feature in children with dup7q11.23 syndrome (33%) [9]. We discuss the present results with published data of patients with duplication and deletion (WBS) 7q11.23 syndromes, in order to outline distinguishing and shared clinical features
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