| pubmed-article:15921166 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:15921166 | lifeskim:mentions | umls-concept:C0008658 | lld:lifeskim |
| pubmed-article:15921166 | lifeskim:mentions | umls-concept:C0678226 | lld:lifeskim |
| pubmed-article:15921166 | lifeskim:mentions | umls-concept:C0439855 | lld:lifeskim |
| pubmed-article:15921166 | lifeskim:mentions | umls-concept:C1511695 | lld:lifeskim |
| pubmed-article:15921166 | lifeskim:mentions | umls-concept:C1515568 | lld:lifeskim |
| pubmed-article:15921166 | pubmed:issue | 2 | lld:pubmed |
| pubmed-article:15921166 | pubmed:dateCreated | 2005-5-30 | lld:pubmed |
| pubmed-article:15921166 | pubmed:abstractText | We describe a child with ATR-16 [alpha-thalassemia (thal)/mental retardation], who was referred for genetic evaluation because of minor anomalies and developmental delay. Cytogenetic analysis demonstrated a de novo complex rearrangement of chromosome 16. Fluorescence in situ hybridization (FISH) analysis, using chromosome 16 subtelomeric probes, showed that this patient had a deletion of the distal short arm of chromosome 16 that contains the alpha-globin genes and a duplication of 16q. Analysis of the alpha-globin locus by Southern blot showed a half normal dose of the alpha-globin gene. Microsatellite marker studies revealed that the duplicated 16q region was maternal in origin. Hematological studies revealed anemia, hypochromia and occasional cells with Hb H inclusion bodies. A hematological screening for alpha-thal should be considered in patients with mild developmental delay and a suggestive phenotype of ATR-16 with microcytic hypochromic anemia and normal iron status. The stellate pattern of the iris, a new finding in our patient, may contribute to a better clinical delineation of both syndromes, ATR-16 and/or duplication of 16qter. | lld:pubmed |
| pubmed-article:15921166 | pubmed:language | eng | lld:pubmed |
| pubmed-article:15921166 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:15921166 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:15921166 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:15921166 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:15921166 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:15921166 | pubmed:issn | 0363-0269 | lld:pubmed |
| pubmed-article:15921166 | pubmed:author | pubmed-author:ShafferLisa... | lld:pubmed |
| pubmed-article:15921166 | pubmed:author | pubmed-author:BacinoCarlos... | lld:pubmed |
| pubmed-article:15921166 | pubmed:author | pubmed-author:GallegoMarta... | lld:pubmed |
| pubmed-article:15921166 | pubmed:author | pubmed-author:BarreiroCrist... | lld:pubmed |
| pubmed-article:15921166 | pubmed:author | pubmed-author:BaileyKristen... | lld:pubmed |
| pubmed-article:15921166 | pubmed:author | pubmed-author:ZelayaGabriel... | lld:pubmed |
| pubmed-article:15921166 | pubmed:author | pubmed-author:FeliuAurora... | lld:pubmed |
| pubmed-article:15921166 | pubmed:author | pubmed-author:RossettiLilia... | lld:pubmed |
| pubmed-article:15921166 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:15921166 | pubmed:volume | 29 | lld:pubmed |
| pubmed-article:15921166 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:15921166 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:15921166 | pubmed:pagination | 141-50 | lld:pubmed |
| pubmed-article:15921166 | pubmed:dateRevised | 2011-11-17 | lld:pubmed |
| pubmed-article:15921166 | pubmed:meshHeading | pubmed-meshheading:15921166... | lld:pubmed |
| pubmed-article:15921166 | pubmed:meshHeading | pubmed-meshheading:15921166... | lld:pubmed |
| pubmed-article:15921166 | pubmed:meshHeading | pubmed-meshheading:15921166... | lld:pubmed |
| pubmed-article:15921166 | pubmed:meshHeading | pubmed-meshheading:15921166... | lld:pubmed |
| pubmed-article:15921166 | pubmed:meshHeading | pubmed-meshheading:15921166... | lld:pubmed |
| pubmed-article:15921166 | pubmed:meshHeading | pubmed-meshheading:15921166... | lld:pubmed |
| pubmed-article:15921166 | pubmed:meshHeading | pubmed-meshheading:15921166... | lld:pubmed |
| pubmed-article:15921166 | pubmed:meshHeading | pubmed-meshheading:15921166... | lld:pubmed |
| pubmed-article:15921166 | pubmed:meshHeading | pubmed-meshheading:15921166... | lld:pubmed |
| pubmed-article:15921166 | pubmed:meshHeading | pubmed-meshheading:15921166... | lld:pubmed |
| pubmed-article:15921166 | pubmed:meshHeading | pubmed-meshheading:15921166... | lld:pubmed |
| pubmed-article:15921166 | pubmed:meshHeading | pubmed-meshheading:15921166... | lld:pubmed |
| pubmed-article:15921166 | pubmed:meshHeading | pubmed-meshheading:15921166... | lld:pubmed |
| pubmed-article:15921166 | pubmed:meshHeading | pubmed-meshheading:15921166... | lld:pubmed |
| pubmed-article:15921166 | pubmed:meshHeading | pubmed-meshheading:15921166... | lld:pubmed |
| pubmed-article:15921166 | pubmed:year | 2005 | lld:pubmed |
| pubmed-article:15921166 | pubmed:articleTitle | ATR-16 due to a de novo complex rearrangement of chromosome 16. | lld:pubmed |
| pubmed-article:15921166 | pubmed:affiliation | Laboratorio de Citogenética, Servicio de Genética, Hospital de Pediatría Professor Dr. Juan P. Garrahan, Buenos Aires, Argentina. mgallego@garrahan.gov.ar | lld:pubmed |
| pubmed-article:15921166 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:15921166 | pubmed:publicationType | Case Reports | lld:pubmed |
