Abstract
A patient with the diagnosis of Langer-Giedion syndrome (tricho-rhino-phalangeal syndrome type II) and interstitial 8q deletion was also noted to have persistent cloaca and prune belly sequence. This is the first report of this association. If it postulated that these latter embryonic defects may be due to the chromosome abnormality, supporting the definition of contiguous gene syndrome.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Abnormalities, Multiple / genetics*
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Chromosome Aberrations* / genetics
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Chromosome Aberrations* / pathology
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Chromosome Deletion*
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Chromosome Disorders*
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Chromosomes, Human, Pair 8 / ultrastructure*
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Cloaca / abnormalities*
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Female
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Humans
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Infant, Newborn
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Intellectual Disability / genetics*
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Langer-Giedion Syndrome / genetics*
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Phenotype
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Prune Belly Syndrome / genetics*