A Case of Partial Trisomy 20p Resulting from Meiotic Recombination of a Maternal Pericentric Inversion

作者：Kang Jeong Eun; Park Mi Young; Cheon Chong Kun; Lee Hyoung Doo; Hwang Sang Hyun; Yi Jongyoun^*

来源：Annals of Laboratory Medicine, 2012, 32(1): 91-94.

DOI：10.3343/alm.2012.32.1.91

• Trisomy 20p
• Recombinant chromosome
• Chromosome inversion
• Congenital disorders

Here we report the cytogenetic and clinical manifestations observed in a patient with a rec(20) dup(20p)inv(20)(p11.2q13.3)mat. The patient was a full-term newborn girl with asymmetric intrauterine growth restriction and multiple congenital malformations, including a ventricular septal defect, pulmonary atresia, ambiguous genitalia, clinodactyly, and sacral dimpling. To our knowledge, this is the 4th report in the world and the 1st one in Korea of a patient with rec(20)dup(20p).

• 出版日期2012-1