Abstract
In the present study we describe a patient with characteristic brachydactily, developmental delay and interstitial del 13q22-->q31. After the review of the literature, few cases sharing similar chromosomal deletions were found and they displayed little resemblance with our patient. We discuss the phenotype correlation among the deleted regions in such cases.
MeSH terms
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Abnormalities, Multiple / genetics*
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Abnormalities, Multiple / pathology
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Child
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Chromosome Banding
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Chromosome Deletion*
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Chromosomes, Human, Pair 13 / genetics*
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Craniofacial Abnormalities / pathology
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Facies*
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Foot Deformities / pathology
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Growth Disorders / pathology
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Hand Deformities, Congenital / diagnostic imaging
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Hand Deformities, Congenital / pathology
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Humans
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Karyotyping
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Language Development Disorders / pathology
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Male
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Psychomotor Disorders / pathology
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Radiography
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Toes / abnormalities
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Toes / diagnostic imaging