Biparental/androgenetic mosaicism in a male with features of overgrowth and placental mesenchymal dysplasia.
Biparental/androgenetic mosaicism is a rarely diagnosed condition in humans. It is typically ascertained prenatally on the basis of placental mesenchymal dysplasia. Fetal outcome can range from demise due to intrauterine growth retardation to term delivery. Most of the published cases of liveborns represent females that are either completely normal or have features of Beckwith-Wiedemann syndrome. Only two healthy liveborn males with mosaicism detected in the placenta have been described to date. Here, we report another liveborn male with hepatic mesenchymal hamartoma, soft tissue overgrowth on his right fifth toe, hemangiomas over his chest, right buttock and foot, anemia, thrombocytopenia and congenital hypothyroidism with biparental/androgenetic mosaicism detected in the toe mass in addition to the placenta. This new case adds to the existing literature of individuals with biparental/androgenetic mosaicism and expands the range of clinical presentations that may be seen in male patients with this condition. This study also illustrates the important use of single-nucleotide polymorphism microarray in conjunction with short-tandem repeat analysis on affected tissue to provide a diagnosis for patients with features of overgrowth and prior, non-diagnostic, genetic analyses of their peripheral blood.
Biopsy; Chromosome Banding; Congenital Abnormalities; Female; Genetic Association Studies; Genetic Predisposition to Disease; Genetic Testing; Genetic Variation; Humans; In Situ Hybridization, Fluorescence; Infant; Liver Diseases; Male; Mosaicism; Phenotype; Placenta; Polymorphism, Single Nucleotide; Pregnancy
SNP microarray; androgenetic/biparental mosaicism; genome-wide paternal UPD; overgrowth; placental mesenchymal dysplasia; tissue-specific
Repnikova E, Roberts J, Kats A, et al. Biparental/androgenetic mosaicism in a male with features of overgrowth and placental mesenchymal dysplasia. Clin Genet. 2018;94(6):564-568. doi:10.1111/cge.13431