Abstract
In the present report we describe a girl with mental retardation, Dandy-Walker malformation, craniofacial anomalies, cardiac defect, and ovarian dysgenesis associated with an interstitial deletion of chromosome 2. The interstitial deletion in the proband was associated with an apparently balanced translocation involving chromosomes 2 and 7 in the father.
Publication types
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Case Reports
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Abnormalities, Multiple / diagnosis
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Abnormalities, Multiple / genetics
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Child, Preschool
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Chromosome Aberrations / diagnosis
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Chromosome Aberrations / genetics*
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Chromosome Deletion*
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Chromosome Disorders
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Chromosomes, Human, Pair 2*
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Dandy-Walker Syndrome / diagnosis
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Dandy-Walker Syndrome / genetics
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Female
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Follow-Up Studies
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Heart Septal Defects, Atrial / diagnosis
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Heart Septal Defects, Atrial / genetics
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Humans
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Infant
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Karyotyping
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Ovary / abnormalities*