| 1.6Mb deletion in chromosome band 3q29 associated with eye abnormalities. | |
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MedLine Citation:
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PMID: 19298871 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We report on a patient with a de novo microdeletion 3q29 detected by molecular karyotyping using array CGH analysis. The girl displayed microphthalmia and cataract, hyperplastic pyloric stenosis, mild dysmorphic facial features, and developmental delay. Array CGH analysis uncovered a 1.6Mb deletion within chromosome band 3q29, which overlaps with the commonly deleted region in 3q29 microdeletion syndrome. According to published data, none of the patients with deletion 3q29 showed either congenital cataract and microphthalmia, or other ocular features. Our report expands the phenotypic spectrum of the 3q29 microdeletion syndrome by adding structural eye malformations. |
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Authors:
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Nataliya Tyshchenko; Karl Hackmann; Eva-Maria Gerlach; Teresa Neuhann; Evelin Schrock; Sigrid Tinschert |
Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't Date: 2009-03-17 |
Journal Detail:
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Title: European journal of medical genetics Volume: 52 ISSN: 1878-0849 ISO Abbreviation: Eur J Med Genet Publication Date: 2009 Mar-Jun |
Date Detail:
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Created Date: 2009-05-15 Completed Date: 2009-09-01 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101247089 Medline TA: Eur J Med Genet Country: Netherlands |
Other Details:
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Languages: eng Pagination: 128-30 Citation Subset: IM |
Affiliation:
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Institut für Klinische Genetik, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Fetscherstrasse 74, 01307 Dresden, Germany. nataliya.tyshchenko@tu-dresden.de |
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| MeSH Terms | |
Descriptor/Qualifier:
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Cataract Chromosome Deletion* Chromosome Disorders* / genetics, pathology Chromosomes, Human, Pair 3 / genetics* Comparative Genomic Hybridization Developmental Disabilities Eye Abnormalities / genetics* Female Genomics / methods Humans Infant Karyotyping Microphthalmos |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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