Disomic balanced reciprocal translocation.

P L Wilmot; L R Shapiro; A C Casamassima

doi:10.1111/j.1399-0004.1990.tb03560.x

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Disomic balanced reciprocal translocation.

P L Wilmot·L R Shapiro·A C Casamassima

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Abstract

The previously unreported and unique finding of a complete disomy of an apparently balanced reciprocal translocation is described. The parents are second cousins once removed and each parent contributed the same balanced reciprocal translocation chromosome. Although the complete disomy involves balanced translocation chromosomes from unaffected parents, it is possible that a hemizygous state of some genes may be present on each translocation chromosome, which in a disomic homozygous state could result in an abnormal phenotype, as manifested by infantile seizures in this patient.

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Chromosomes, Human, Pair 16 Chromosomes, Human, Pair 3 Consanguinity Genetic Carrier Screening Genetic Counseling Humans Infant Male Spasms, Infantile Translocation, Genetic Case Reports Journal Article

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P L Wilmot, L R Shapiro, A C Casamassima. 1990. Disomic balanced reciprocal translocation.. https://doi.org/10.1111/j.1399-0004.1990.tb03560.x

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