| Proximal interstitial 1p36 deletion syndrome: the most proximal 3.5-Mb microdeletion identified on a dysmorphic and mentally retarded patient with inv(3)(p14.1q26.2). | |
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MedLine Citation:
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PMID: 18835671 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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From the investigation by microarray-based comparative genomic hybridization (aCGH), a new syndrome with "atypical" proximal interstitial deletion of 1p36.23-36.11 has been suggested. Here, we report on an 8.5-year-old girl with psychomotor developmental delay and a dysmorphic appearance. Although her G-banded chromosomal analysis showed inv(3)(p14.1q26.2), detailed FISH analyses denied pathogenic deletions around the breakpoints of chromosome 3. Accordingly, aCGH analysis was performed to identify a genomic aberration related to her phenotype, and a 3.5-Mb interstitial deletion of 1p36.13-36.12 was revealed. This deletion was the most proximal interstitial deletion of 1p36. Compared to the previously reported patients, abnormally shaped teeth, delayed tooth eruption, and leg malformation are unique phenotypes only to this patient, which might be due to the centromeric unique deletion region with 0.8-Mb. |
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Authors:
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Keiko Shimojima; Marco T Páez; Kenji Kurosawa; Toshiyuki Yamamoto |
Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't Date: 2008-10-05 |
Journal Detail:
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Title: Brain & development Volume: 31 ISSN: 1872-7131 ISO Abbreviation: Brain Dev. Publication Date: 2009 Sep |
Date Detail:
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Created Date: 2009-08-03 Completed Date: 2009-09-25 Revised Date: 2009-11-19 |
Medline Journal Info:
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Nlm Unique ID: 7909235 Medline TA: Brain Dev Country: Netherlands |
Other Details:
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Languages: eng Pagination: 629-33 Citation Subset: IM |
Affiliation:
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International Research and Educational Institute for Integrated Medical Sciences (IREIIMS), Tokyo Women's Medical University, Tokyo, Japan. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics* Child Chromosome Deletion* Chromosome Inversion Chromosome Mapping Chromosomes, Human, Pair 1 / genetics* Chromosomes, Human, Pair 3* Craniofacial Abnormalities / diagnosis, genetics Female Humans In Situ Hybridization, Fluorescence Mental Retardation / diagnosis, genetics Muscle Hypotonia / diagnosis, genetics Oligonucleotide Array Sequence Analysis Phenotype Syndrome |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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