"Idiopathic" mental retardation and new chromosomal abnormalities
<p>Abstract</p> <p>Mental retardation is a heterogeneous condition, affecting 1-3% of general population. In the last few years, several emerging clinical entities have been described, due to the advent of newest genetic techniques, such as array Comparative Genomic Hybridization....
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2010-02-01
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| Series: | Italian Journal of Pediatrics |
| Online Access: | http://www.ijponline.net/content/36/1/17 |
| _version_ | 1818751405410746368 |
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| author | El-Malhany Nadia Lo-Castro Adriana Galasso Cinzia Curatolo Paolo |
| author_facet | El-Malhany Nadia Lo-Castro Adriana Galasso Cinzia Curatolo Paolo |
| author_sort | El-Malhany Nadia |
| collection | DOAJ |
| description | <p>Abstract</p> <p>Mental retardation is a heterogeneous condition, affecting 1-3% of general population. In the last few years, several emerging clinical entities have been described, due to the advent of newest genetic techniques, such as array Comparative Genomic Hybridization. The detection of cryptic microdeletion/microduplication abnormalities has allowed genotype-phenotype correlations, delineating recognizable syndromic conditions that are herein reviewed. With the aim to provide to Paediatricians a combined clinical and genetic approach to the child with cognitive impairment, a practical diagnostic algorithm is also illustrated. The use of microarray platforms has further reduced the percentage of "idiopathic" forms of mental retardation, previously accounted for about half of total cases. We discussed the putative pathways at the basis of remaining "pure idiopathic" forms of mental retardation, highlighting possible environmental and epigenetic mechanisms as causes of altered cognition.</p> |
| first_indexed | 2024-12-18T04:35:03Z |
| format | Article |
| id | doaj.art-0ff8ecb13edf4613b228e1516aa545ac |
| institution | Directory Open Access Journal |
| issn | 1720-8424 1824-7288 |
| language | English |
| last_indexed | 2024-12-18T04:35:03Z |
| publishDate | 2010-02-01 |
| publisher | BMC |
| record_format | Article |
| series | Italian Journal of Pediatrics |
| spelling | doaj.art-0ff8ecb13edf4613b228e1516aa545ac2022-12-21T21:20:52ZengBMCItalian Journal of Pediatrics1720-84241824-72882010-02-013611710.1186/1824-7288-36-17"Idiopathic" mental retardation and new chromosomal abnormalitiesEl-Malhany NadiaLo-Castro AdrianaGalasso CinziaCuratolo Paolo<p>Abstract</p> <p>Mental retardation is a heterogeneous condition, affecting 1-3% of general population. In the last few years, several emerging clinical entities have been described, due to the advent of newest genetic techniques, such as array Comparative Genomic Hybridization. The detection of cryptic microdeletion/microduplication abnormalities has allowed genotype-phenotype correlations, delineating recognizable syndromic conditions that are herein reviewed. With the aim to provide to Paediatricians a combined clinical and genetic approach to the child with cognitive impairment, a practical diagnostic algorithm is also illustrated. The use of microarray platforms has further reduced the percentage of "idiopathic" forms of mental retardation, previously accounted for about half of total cases. We discussed the putative pathways at the basis of remaining "pure idiopathic" forms of mental retardation, highlighting possible environmental and epigenetic mechanisms as causes of altered cognition.</p>http://www.ijponline.net/content/36/1/17 |
| spellingShingle | El-Malhany Nadia Lo-Castro Adriana Galasso Cinzia Curatolo Paolo "Idiopathic" mental retardation and new chromosomal abnormalities Italian Journal of Pediatrics |
| title | "Idiopathic" mental retardation and new chromosomal abnormalities |
| title_full | "Idiopathic" mental retardation and new chromosomal abnormalities |
| title_fullStr | "Idiopathic" mental retardation and new chromosomal abnormalities |
| title_full_unstemmed | "Idiopathic" mental retardation and new chromosomal abnormalities |
| title_short | "Idiopathic" mental retardation and new chromosomal abnormalities |
| title_sort | idiopathic mental retardation and new chromosomal abnormalities |
| url | http://www.ijponline.net/content/36/1/17 |
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