Recurring germline mosaicism in a family due to reversion of an inherited derivative chromosome 8 from an 8;21 translocation with interstitial telomeric sequences.
Bi W, Yuan B, Liu P, Murry JB, Qin X, Xia F, Quach T, Cooper LM, Wiszniewska J, Hixson P, Peacock S, Tonk VS, Huff RW, Ortega V, Lupski JR, Scherer SE, Littlejohn RO, Velagaleti GVN, Roeder ER, Cheung SW.
Bi W, et al. Among authors: velagaleti gvn.
J Med Genet. 2023 Jun;60(6):547-556. doi: 10.1136/jmg-2022-108586. Epub 2022 Sep 23.
J Med Genet. 2023.
PMID: 36150828