A new case of interstitial deletion of chromosome 3q, del(3q)(q13.12q21.3), with agenesis of the corpus callosum.
Identifieur interne : 005488 ( PubMed/Curation ); précédent : 005487; suivant : 005489A new case of interstitial deletion of chromosome 3q, del(3q)(q13.12q21.3), with agenesis of the corpus callosum.
Auteurs : M. Genuardi [Italie] ; F. Calvieri ; C. Tozzi ; R. Coslovi ; G. NeriSource :
- Clinical dysmorphology [ 0962-8827 ] ; 1994.
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Abstract
We describe a boy with an interstitial deletion of the proximal portion of chromosome 3q. Prominent physical characteristics were a dysmorphic face with apparent hypertelorism, signs of prenatal lymphedema, foot contractures and agenesis of the corpus callosum. The finding of corpus callosum agenesis in a previously reported patient with an overlapping deletion suggests an additional locus for this malformation.
PubMed: 7894733
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Prominent physical characteristics were a dysmorphic face with apparent hypertelorism, signs of prenatal lymphedema, foot contractures and agenesis of the corpus callosum. The finding of corpus callosum agenesis in a previously reported patient with an overlapping deletion suggests an additional locus for this malformation.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">7894733</PMID><DateCreated><Year>1995</Year><Month>04</Month><Day>27</Day></DateCreated><DateCompleted><Year>1995</Year><Month>04</Month><Day>27</Day></DateCompleted><DateRevised><Year>2011</Year><Month>11</Month><Day>17</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0962-8827</ISSN><JournalIssue CitedMedium="Print"><Volume>3</Volume><Issue>4</Issue><PubDate><Year>1994</Year><Month>Oct</Month></PubDate></JournalIssue><Title>Clinical dysmorphology</Title><ISOAbbreviation>Clin. 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