Abstract
We describe a child with Wolf-Hirschhorn syndrome with the karyotype 45,XY,inv(9)(p11q13)pat,-4,-21,+der(4),t(4;21)(p15.3;q11.2)mat. This is the second case known to us of Wolf-Hirschhorn syndrome caused by 1:3 segregation of a parental rearrangement. This mode of segregation can be predicted in both cases by a pachytene-diagram model. It is uncertain whether or not the proximal 21q monosomy in this case has affected the phenotype.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Abnormalities, Multiple / genetics*
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Adult
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Chromosome Banding
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Chromosome Deletion*
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Chromosomes, Human, 21-22 and Y*
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Chromosomes, Human, 4-5*
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Female
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Growth Disorders / genetics
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Humans
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Hypertelorism / genetics
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Infant
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Intellectual Disability / genetics
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Lymphocytes / ultrastructure
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Male
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Micrognathism / genetics
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Pedigree
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Phenotype
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Syndrome
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Translocation, Genetic*