A new case of dup(1)(q21.2q12) in an individual with mild mental retardation
Proximal duplications of the long arm of chromosome 1 are rare and the few patients that have been described in literature have multiple congenital abnormalities and/or mental retardation. The present paper describes the clinical and cytogenetic findings of an adult patient with only mild mental ret...
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| Published in: | Genetic counseling Vol. 14; no. 4; p. 407 |
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| Main Authors: | , , , |
| Format: | Journal Article |
| Language: | English |
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Switzerland
2003
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| Abstract | Proximal duplications of the long arm of chromosome 1 are rare and the few patients that have been described in literature have multiple congenital abnormalities and/or mental retardation. The present paper describes the clinical and cytogenetic findings of an adult patient with only mild mental retardation and some minor malformations. The patient carries an inverted duplication of 1q12q21.2. |
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| AbstractList | Proximal duplications of the long arm of chromosome 1 are rare and the few patients that have been described in literature have multiple congenital abnormalities and/or mental retardation. The present paper describes the clinical and cytogenetic findings of an adult patient with only mild mental retardation and some minor malformations. The patient carries an inverted duplication of 1q12q21.2. |
| Author | Faas, B H W Mieloo, H Van Es-Van Gaal, J W M Van Ravenswaaij, C |
| Author_xml | – sequence: 1 givenname: B H W surname: Faas fullname: Faas, B H W email: b.faas@antrg.umcn.nl organization: Department of Human Genetics, University Medical Centre Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands. b.faas@antrg.umcn.nl – sequence: 2 givenname: H surname: Mieloo fullname: Mieloo, H – sequence: 3 givenname: J W M surname: Van Es-Van Gaal fullname: Van Es-Van Gaal, J W M – sequence: 4 givenname: C surname: Van Ravenswaaij fullname: Van Ravenswaaij, C |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/14738114$$D View this record in MEDLINE/PubMed |
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| SubjectTerms | Adult Chromosomes, Human, Pair 1 Gene Duplication Humans Intellectual Disability - genetics Male |
| Title | A new case of dup(1)(q21.2q12) in an individual with mild mental retardation |
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