Article
Prenatal diagnosis of trisomy 6 rescue resulting in paternal UPD6 with novel placental findings.
American journal of medical genetics. Part A - 1 Aug 2011
Cajaiba Mariana M, Witchel Selma, Madan-Khetarpal Suneeta, Hoover Jaqueline, Hoffner Lori, Macpherson Trevor, Surti Urvashi
Abstract excerpt
Uniparental disomy (UPD) is defined by the inheritance of both copies of a chromosome pair from one single parent. Although 23 cases of paternal UPD6 have been reported earlier, the occurrence of trisomy 6 rescue with paternal UPD6 has not been previously reported. The phenotype of paternal UPD6 results from biallelic expression of the maternally imprinted, paternally expressed ZAC and HYMAI genes, and includes...
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