High Intellectual Function in Individuals with Mutation-Positive Microform Holoprosencephaly
نویسندگان
چکیده
منابع مشابه
High Intellectual Function in Individuals with Mutation-Positive Microform Holoprosencephaly.
Holoprosencephaly is the most common malformation of the forebrain and typically results in severe neurocognitive impairment with accompanying midline facial anomalies. Holoprosencephaly is heterogeneous and may be caused by chromosome aberrations or environmental factors, occur in the context of a syndrome or be due to heterozygous mutations in over 10 identified genes. The presence of these m...
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Holoprosencephaly (HPE) is a heterogeneous craniofacial and neural developmental anomaly characterized in its most severe form by the failure of the forebrain to divide. In humans, HPE is associated with disruption of Sonic hedgehog and Nodal signaling pathways, but the role of other signaling pathways has not yet been determined. In this study, we analyzed mice which, due to the lack of the Bm...
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We report a 20-year-old female with features evocative of Turner syndrome (short stature, broad trunk, mild webbed neck), dysmorphic face, minor features of holo-prosencephaly (HPE), small hands and feet, excessive hair growth on anterior trunk and intellectual disability. Cytogenetic analysis identified a pseudodicentric 14;18 chromosome. Genome wide single nucleotide polymorphism (SNP) array ...
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Holoprosencephaly (HPE), the most common developmental defect of the forebrain and midface, is caused by a failure to delineate the midline in these structures. Despite the identification of several HPE genes, its genetic basis is largely unknown. Furthermore, the phenotype of affected individuals is highly variable, even within pedigrees. Facial defects in HPE range from cyclopia and proboscis...
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The aim of the present study was to investigate executive functions in adults with intellectual disability, and compare them to a closely matched control group longitudinally for 5 years. In the Betula database, a group of adults with intellectual disability (ID, n=46) was defined from measures of verbal and non-verbal IQ. A control group, with two people for every person with intellectual disa...
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ژورنال
عنوان ژورنال: Molecular Syndromology
سال: 2012
ISSN: 1661-8777,1661-8769
DOI: 10.1159/000341373