Abstract
Relatively, few reports of deletions involving the distal long arm of chromosome 4 (4q) exist. Five further cases are described and the findings are compared with those in previous literature reports. Distal 4q deletions may be recognized by the distinctive appearance of the fifth finger, which is stiff with a hypoplastic distal phalanx and a hooked or volar nail. All cases with this characteristic fifth finger anomaly appear to have deletions involving 4q34.
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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Abnormalities, Multiple / genetics*
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Abnormalities, Multiple / pathology
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Adult
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Basic Helix-Loop-Helix Transcription Factors / genetics
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Child, Preschool
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Chromosome Deletion*
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Chromosomes, Human, Pair 4 / genetics*
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Craniofacial Abnormalities / pathology
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Family Health
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Female
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Finger Phalanges / abnormalities
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Fingers / abnormalities
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Heart Defects, Congenital / pathology
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Humans
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Infant
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Karyotyping
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Middle Aged
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Nails, Malformed*
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Syndrome
Substances
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Basic Helix-Loop-Helix Transcription Factors
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HAND2 protein, human