Abstract
We report a 1 8/12-year-old male with a de novo deletion of 1q42. The case is compared with 23 others from the literature. The clinical manifestations of our patient correspond with the phenotype of previous reports.
MeSH terms
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Chromosome Deletion*
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Chromosomes, Human, Pair 1*
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Genitalia, Male / abnormalities
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Hand Deformities, Congenital / genetics
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Humans
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Infant
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Karyotyping
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Male
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Microcephaly / genetics
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Psychomotor Disorders / genetics
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Syndrome