Abstract
We report on cases of Greig syndrome segregating in a large kindred over four generations due to reciprocal translocation t(6;7)(q27;p13) and on a patient from this pedigree with a severe malformation syndrome due to duplication 7(p13----pter). The clinical findings are discussed as possible consequence of a gene mutation due to the break at 7p13.
MeSH terms
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Abnormalities, Multiple / genetics*
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Abnormalities, Multiple / pathology
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Anthropometry
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Chromosome Banding
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Chromosome Mapping
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Chromosomes, Human, Pair 13*
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Chromosomes, Human, Pair 6*
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Chromosomes, Human, Pair 7*
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DNA Probes
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Facial Bones / abnormalities
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Family Health
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Female
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Heterozygote
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Humans
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Hypertelorism / genetics
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Hypertelorism / pathology
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Infant, Newborn
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Male
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Pedigree
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Skull / abnormalities
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Syndrome
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Translocation, Genetic*