RT Journal Article
T1 Language Impairment Resulting from a de novo Deletion of 7q32.1q33
A1 Jimenez-Romero, Maria S.
A1 Barcos-Martinez, Montserrat
A1 Espejo-Portero, Isabel
A1 Benitez-Burraco, Antonio
K1 Behavioral disturbances
K1 Copy number variations
K1 Cognitive delay
K1 Language impairment
K1 7q32.1q33
AB We report on a girl who presents with hearing loss, behavioral disturbances (according to the Inventory for Client and Agency Planning) as well as motor and cognitive delay (according to Battelle Developmental Inventories) which have a significant impact on her speech and language abilities [ according to the Peabody Picture Vocabulary Test (ed 3), and the Prueba de Lenguaje Oral de Navarra-Revisada (Navarra Oral Language Test, Revised)]. Five copy number variations (CNVs) were identified in the child: arr[ hg18] 7q32.1q33(127109685-132492196)x1, 8p23.1(7156900-7359099) x1, 15q13.1(26215673-26884937) x1,Xp22.33(17245-102434)x3, and Xp22.33(964441-965024) x3. The pathogenicity of similar CNVs is mostly reported as unknown. The largest deletion is found in a hot spot for cognitive disease and language impairment and contains several genes involved in brain development and function, many of which have been related to developmental disorders encompassing language deficits (dyslexia, speech-sound disorder, and autism). Some of these genes interact with FOXP2. The proband's phenotype may result from a reduced expression of some of these genes. 
PB Karger
PB S. Karger AG
SN 1661-8769
YR 2016
FD 2016-06-20
LK http://hdl.handle.net/10668/19082
UL http://hdl.handle.net/10668/19082
LA en
NO Jiménez-Romero MS, Barcos-Martínez M, Espejo-Portero I, Benítez-Burraco A. Language Impairment Resulting from a de novo Deletion of 7q32.1q33. Mol Syndromol. 2016 Oct;7(5):292-298
NO This work was supported by the Spanish Ministry of Economy and Competitiveness (grant FFI2014-61888-EXP to A.B.-B.).
DS RISalud
RD Apr 7, 2025