Abstract
A child with multiple congenital abnormalities and a de novo interstitial deletion of the long arm of chromosome 17 is reported. This is the third case reported with this chromosome abnormality. The three cases present a peculiar phenotype, which is probably specific to the deletion.
MeSH terms
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Abnormalities, Multiple / genetics*
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Chromosome Deletion*
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Chromosomes, Human, Pair 17*
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Cryptorchidism / genetics
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Face / abnormalities
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Hearing Loss, Bilateral / genetics
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Hernia, Inguinal / genetics
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Hip Dislocation, Congenital / genetics
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Humans
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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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Microcephaly / genetics
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Phenotype
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Skull / abnormalities*
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Thumb / abnormalities
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Vision, Low / genetics