TY - JOUR
T1 - 7q11.23 microduplication syndrome
T2 - Clinical and neurobehavioral profiling
AU - Dentici, Maria Lisa
AU - Bergonzini, Paola
AU - Scibelli, Francesco
AU - Caciolo, Cristina
AU - De Rose, Paola
AU - Cumbo, Francesca
AU - Alesi, Viola
AU - Capolino, Rossella
AU - Zanni, Ginevra
AU - Sinibaldi, Lorenzo
AU - Novelli, Antonio
AU - Tartaglia, Marco
AU - Digilio, Maria Cristina
AU - Dallapiccola, Bruno
AU - Vicari, Stefano
AU - Alfieri, Paolo
N1 - Funding Information:
Funding: This research was funded by Ministero della Salute, grant number RC2020, to M.L.D.
Publisher Copyright:
© 2020 by the authors. Licensee MDPI, Basel, Switzerland.
PY - 2020/11
Y1 - 2020/11
N2 - 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.
AB - 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.
KW - Anxiety disorder
KW - Congenital anomalies
KW - Dup7q11.23
KW - Duplication
KW - Intellectual disability
KW - Williams–Beuren Syndrome
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U2 - 10.3390/brainsci10110839
DO - 10.3390/brainsci10110839
M3 - Article
AN - SCOPUS:85096020039
VL - 10
SP - 1
EP - 19
JO - Brain Sciences
JF - Brain Sciences
SN - 2076-3425
IS - 11
M1 - 839
ER -