分子与遗传医学

De novo Atypical Chromosome Translocation 46, XY, t(4;13)(q12;p12)dn in Prenatal Diagnosis

Abstract

Chetta M, Di-Matteo L, Russo M, Sodano E, Festa M and De-Feo G

Apparently balanced reciprocal translocations are a common type of chromosome rearrangements with an estimate incidence range from about 1 in 500 to 1 in 625 human newborns. Rearrangements were found both in clinically unaffected individuals and patients with phenotypic abnormalities. Most are inherited, but approximately one in five are de novo events and introduce a risk of abnormal phenotype in 6.1% of prenatal genetic counseling.