Abstract
We report here on phenotype-karyotype correlations in two patients with and without complete features of the WHS but sharing the lack of a specific cosmic probe (D4S96/D4Z1) from 4p16.3. These findings indicate that WHS is true a contiguous gene deletion syndrome in nature and expression.
MeSH terms
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Abnormalities, Multiple / etiology
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Abnormalities, Multiple / genetics*
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Adolescent
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Adult
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Animals
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Child
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Child, Preschool
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Chromosome Banding
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Chromosomes, Human, Pair 4*
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Cleft Lip / genetics
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Cleft Palate / genetics
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DNA Probes
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Eye Abnormalities / genetics
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Female
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Gene Deletion*
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Heart Defects, Congenital
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Humans
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In Situ Hybridization, Fluorescence / methods
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Infant, Newborn
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Intellectual Disability / genetics
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Karyotyping
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Male
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Mice / abnormalities
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Pregnancy