Abstract
We report a case carrying a de novo interstitial deletion of chromosome 3q22-q25. The clinical phenotype of this case included blepharophimosis/ptosis/epicanthus inversus syndrome, Dandy-Walker malformation, and global developmental delay. Contiguous heterozygous deletion of FOXL2, ATR, ZIC1, and ZIC4 was postulated as the causative mechanism of the clinical phenotype. The association of blepharophimosis, ptosis, and epicanthus inversus syndrome with developmental delay or mental retardation may be an indication for the use of brain imaging and chromosomal analysis capable of detecting chromosomal rearrangements encompassing several candidate genes.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Ataxia Telangiectasia Mutated Proteins
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Blepharophimosis / complications
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Blepharophimosis / genetics*
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Blepharophimosis / pathology
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Blepharoptosis
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Cell Cycle Proteins / genetics
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Chromosomes, Human, Pair 3 / genetics*
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Dandy-Walker Syndrome / complications
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Dandy-Walker Syndrome / genetics*
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Developmental Disabilities / complications
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Developmental Disabilities / genetics*
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Developmental Disabilities / pathology
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Forkhead Box Protein L2
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Forkhead Transcription Factors / genetics
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Humans
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Infant
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Intellectual Disability / genetics
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Magnetic Resonance Imaging
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Male
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Nerve Tissue Proteins / genetics
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Protein Serine-Threonine Kinases / genetics
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Sequence Deletion / genetics*
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Transcription Factors / genetics
Substances
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Cell Cycle Proteins
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FOXL2 protein, human
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Forkhead Box Protein L2
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Forkhead Transcription Factors
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Nerve Tissue Proteins
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Transcription Factors
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ZIC1 protein, human
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ZIC4 protein, human
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ATR protein, human
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Ataxia Telangiectasia Mutated Proteins
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Protein Serine-Threonine Kinases