| pubmed-article:7837258 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:7837258 | lifeskim:mentions | umls-concept:C0021289 | lld:lifeskim |
| pubmed-article:7837258 | lifeskim:mentions | umls-concept:C0019569 | lld:lifeskim |
| pubmed-article:7837258 | lifeskim:mentions | umls-concept:C0266295 | lld:lifeskim |
| pubmed-article:7837258 | lifeskim:mentions | umls-concept:C2931727 | lld:lifeskim |
| pubmed-article:7837258 | pubmed:issue | 10 | lld:pubmed |
| pubmed-article:7837258 | pubmed:dateCreated | 1995-2-24 | lld:pubmed |
| pubmed-article:7837258 | pubmed:abstractText | A newborn infant is reported who had aganglionic megacolon, renal hypoplasia, severe growth retardation, generalised hypotonia, and various dysmorphic features. Chromosome analysis of lymphocytes and fibroblasts showed a ring chromosome 10 with breakpoints at p13-15 and q26. AluI digestion showed that the ring chromosome was monocentric. FISH with an alpha satellite probe specific for chromosome 10 showed one signal only in about 20% of interphase nuclei. It is suggested that aganglionic megacolon could result from dynamic somatic mosaicism owing to loss of the ring chromosome. | lld:pubmed |
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| pubmed-article:7837258 | pubmed:language | eng | lld:pubmed |
| pubmed-article:7837258 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:7837258 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:7837258 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:7837258 | pubmed:month | Oct | lld:pubmed |
| pubmed-article:7837258 | pubmed:issn | 0022-2593 | lld:pubmed |
| pubmed-article:7837258 | pubmed:author | pubmed-author:AntonucciAA | lld:pubmed |
| pubmed-article:7837258 | pubmed:author | pubmed-author:MariniGG | lld:pubmed |
| pubmed-article:7837258 | pubmed:author | pubmed-author:RossiCC | lld:pubmed |
| pubmed-article:7837258 | pubmed:author | pubmed-author:CalabreseGG | lld:pubmed |
| pubmed-article:7837258 | pubmed:author | pubmed-author:MingarelliRR | lld:pubmed |
| pubmed-article:7837258 | pubmed:author | pubmed-author:StuppiaLL | lld:pubmed |
| pubmed-article:7837258 | pubmed:author | pubmed-author:PeilaRR | lld:pubmed |
| pubmed-article:7837258 | pubmed:author | pubmed-author:RamenghiLL | lld:pubmed |
| pubmed-article:7837258 | pubmed:author | pubmed-author:MorizioEE | lld:pubmed |
| pubmed-article:7837258 | pubmed:author | pubmed-author:FranchiP GPG | lld:pubmed |
| pubmed-article:7837258 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:7837258 | pubmed:volume | 31 | lld:pubmed |
| pubmed-article:7837258 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:7837258 | pubmed:authorsComplete | N | lld:pubmed |
| pubmed-article:7837258 | pubmed:pagination | 804-6 | lld:pubmed |
| pubmed-article:7837258 | pubmed:dateRevised | 2009-11-18 | lld:pubmed |
| pubmed-article:7837258 | pubmed:meshHeading | pubmed-meshheading:7837258-... | lld:pubmed |
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| pubmed-article:7837258 | pubmed:meshHeading | pubmed-meshheading:7837258-... | lld:pubmed |
| pubmed-article:7837258 | pubmed:year | 1994 | lld:pubmed |
| pubmed-article:7837258 | pubmed:articleTitle | A newborn with ring chromosome 10, aganglionic megacolon, and renal hypoplasia. | lld:pubmed |
| pubmed-article:7837258 | pubmed:affiliation | Istituto di Biologia e Genetica, Università di Chieti, Italy. | lld:pubmed |
| pubmed-article:7837258 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:7837258 | pubmed:publicationType | Case Reports | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:7837258 | lld:pubmed |
