Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
10
pubmed:dateCreated
1995-2-24
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.
pubmed:commentsCorrections
http://linkedlifedata.com/resource/pubmed/commentcorrection/7837258-1257746, http://linkedlifedata.com/resource/pubmed/commentcorrection/7837258-1336057, http://linkedlifedata.com/resource/pubmed/commentcorrection/7837258-1524405, http://linkedlifedata.com/resource/pubmed/commentcorrection/7837258-1570843, http://linkedlifedata.com/resource/pubmed/commentcorrection/7837258-1708110, http://linkedlifedata.com/resource/pubmed/commentcorrection/7837258-2037303, http://linkedlifedata.com/resource/pubmed/commentcorrection/7837258-2566146, http://linkedlifedata.com/resource/pubmed/commentcorrection/7837258-2694944, http://linkedlifedata.com/resource/pubmed/commentcorrection/7837258-2992805, http://linkedlifedata.com/resource/pubmed/commentcorrection/7837258-3458254, http://linkedlifedata.com/resource/pubmed/commentcorrection/7837258-511137, http://linkedlifedata.com/resource/pubmed/commentcorrection/7837258-567620, http://linkedlifedata.com/resource/pubmed/commentcorrection/7837258-700708, http://linkedlifedata.com/resource/pubmed/commentcorrection/7837258-7381872, http://linkedlifedata.com/resource/pubmed/commentcorrection/7837258-7904208, http://linkedlifedata.com/resource/pubmed/commentcorrection/7837258-7906865, http://linkedlifedata.com/resource/pubmed/commentcorrection/7837258-7906866, http://linkedlifedata.com/resource/pubmed/commentcorrection/7837258-8114938, http://linkedlifedata.com/resource/pubmed/commentcorrection/7837258-8114939, http://linkedlifedata.com/resource/pubmed/commentcorrection/7837258-8114940, http://linkedlifedata.com/resource/pubmed/commentcorrection/7837258-8230154, http://linkedlifedata.com/resource/pubmed/commentcorrection/7837258-839503, http://linkedlifedata.com/resource/pubmed/commentcorrection/7837258-8401580, http://linkedlifedata.com/resource/pubmed/commentcorrection/7837258-8401581
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
0022-2593
pubmed:author
pubmed:issnType
Print
pubmed:volume
31
pubmed:owner
NLM
pubmed:authorsComplete
N
pubmed:pagination
804-6
pubmed:dateRevised
2009-11-18
pubmed:meshHeading
pubmed:year
1994
pubmed:articleTitle
A newborn with ring chromosome 10, aganglionic megacolon, and renal hypoplasia.
pubmed:affiliation
Istituto di Biologia e Genetica, Università di Chieti, Italy.
pubmed:publicationType
Journal Article, Case Reports