| Trisomy 12p and monosomy 4p: phenotype-genotype correlation. | |
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MedLine Citation:
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PMID: 19378504 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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4p Monosomy and 12p trisomy have been discussed and redefined along with recently reviewed chromosomal syndromes. 12p Trisomy syndrome is characterized by normal or increased birth weight, developmental delay with early hypotonia, psychomotor delay, and typical facial appearance. Most likely, the observed phenotypic variability depends on the type and extent of the associated partial monosomy. Partial deletions of the short arm of one chromosome 4 cause the Wolf-Hirschhorn syndrome (WHS). Affected patients present Greek helmet face, growth and mental retardation, hypotonia, and seizures. The combination of these characteristics constitutes the phenotypic core of WHS. We present a clinical and molecular cytogenetic characterization of a 4-year old mentally retarded girl with macrosomy, facial dysmorphisms, and epilepsy, in whom an unbalanced t(4;12)(p16.3;p13.3) translocation was detected, giving rise to partial 4p monosomy and partial 12p trisomy. Because the patient shows most of the phenotypic characteristics of 12p trisomy, this case could contribute to a better definition of the duplicate critical region that determines the phenotype of the 12p trisomy syndrome. |
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Authors:
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Daniela Gambel Benussi; Paola Costa; Marcella Zollino; Marina Murdolo; Vincenzo Petix; Marco Carrozzi; Vanna Pecile |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Genetic testing and molecular biomarkers Volume: 13 ISSN: 1945-0257 ISO Abbreviation: Genet Test Mol Biomarkers Publication Date: 2009 Apr |
Date Detail:
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Created Date: 2009-04-20 Completed Date: 2009-07-09 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101494210 Medline TA: Genet Test Mol Biomarkers Country: Unknown |
Other Details:
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Languages: eng Pagination: 199-204 Citation Subset: IM |
Affiliation:
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S.C. Genetica Medica, IRCCS Burlo Garofolo, Trieste, Italy. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Child, Preschool Chromosome Aberrations* Chromosome Banding Chromosome Deletion Chromosomes, Artificial, Bacterial Chromosomes, Human, Pair 12 / genetics* Chromosomes, Human, Pair 4 / genetics* Epilepsy / genetics Facies Female Genotype Humans In Situ Hybridization, Fluorescence Karyotyping Mental Retardation / genetics Molecular Probes Muscle Hypotonia / genetics Phenotype Polymorphism, Single Nucleotide Translocation, Genetic / genetics Trisomy / genetics* Wolf-Hirschhorn Syndrome / genetics* |
| Chemical | |
Reg. No./Substance:
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0/Molecular Probes |
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