| Partial trisomy due to a de novo duplication 22q11.1-22q13.1: a cat-eye syndrome variant with brain anomalies. | |
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MedLine Citation:
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PMID: 20420025 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We report a case of partial trisomy 22q with de novo duplication of chromosomal region 22q11.1-22q13.1, also confirmed by microarray comparative genomic hybridization (Array-CGH) analysis. The fetus had interhemispheric cyst and corpus callosum agenesis diagnosed by MRI which has not been reported in the literature. This novel phenotype differs from the reported cat eye syndromes by the absence of heart defects and the presence of brain anomalies. |
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Authors:
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D Karcaaltincaba; S Ceylaner; G Ceylaner; S Dalkilic; K Karli-Oguz; O Kandemir |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Genetic counseling (Geneva, Switzerland) Volume: 21 ISSN: 1015-8146 ISO Abbreviation: Genet. Couns. Publication Date: 2010 |
Date Detail:
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Created Date: 2010-04-27 Completed Date: 2010-05-14 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9015261 Medline TA: Genet Couns Country: Switzerland |
Other Details:
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Languages: eng Pagination: 19-24 Citation Subset: IM |
Affiliation:
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Department of Obstetrics and Gynecology, Etlik Zubeyde Hanim Women's Hospital, Ankara, Turkey. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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diagnosis,
genetics* Arachnoid Cysts Brain / abnormalities* Chromosomes, Human, Pair 22* Comparative Genomic Hybridization Corpus Callosum / abnormalities Eye Abnormalities / diagnosis, genetics* Fatal Outcome Female Gene Duplication* Humans Infant, Newborn Magnetic Resonance Imaging Male Oligonucleotide Array Sequence Analysis Pregnancy Prenatal Diagnosis Syndrome Trisomy / diagnosis, genetics* |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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