Gelman-Kohan Z, Rosensaft J, Ben-Cohen R N, Chemke J
Clinical Genetics Unit, Kaplan Hospital, Rehovot, Israel.
Hum Genet. 1993 Oct;92(4):427. doi: 10.1007/BF01247351.
Two healthy adults, brother and sister, who are homozygotes for inv2(p12q14) are reported. As this is the first report of homozygosity for this inversion the authors ask to be informed of any further known cases.
报道了两名健康的成年兄妹,他们是inv2(p12q14)纯合子。由于这是该倒位纯合性的首次报道,作者希望获知任何其他已知病例。