Abstract
A nine-year-old male with developmental abnormalities was found to be mosaic for an extra No. 9 chromosome (46,XY/47,XY,+9). The clinical findings included severe mental retardation, peculiar facies, short stature, hypotonia, dextroposition with a ventricular septal defect, and patent ductus arteriosus, as well as significant abnormalities of the brain.
MeSH terms
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Abnormalities, Multiple / genetics*
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Adult
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Child
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Child, Preschool
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Chromosome Aberrations
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Chromosome Disorders
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Chromosome Mapping
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Chromosomes, Human, 6-12 and X*
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Dextrocardia / genetics
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Female
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Growth Disorders / genetics
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Humans
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Hyperbilirubinemia / genetics
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Infant
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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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Mosaicism*
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Pregnancy
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Pregnancy Complications
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Trisomy*
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Uterine Hemorrhage / complications