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KMID : 1100720120320010091
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Annals of Laboratory Medicine
2012 Volume.32 No. 1 p.91 ~ p.94
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A Case of Partial Trisomy 20p Resulting from Meiotic Recombination of a Maternal Pericentric Inversion
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Kang Jeong-Eun
Park Mi-Young
Cheon Chong-Kun
Lee Hyoung-Doo
Hwang Sang-Hyun
Yi Jong-Youn
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Abstract
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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).
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KEYWORD
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Trisomy 20p, Recombinant chromosome, Chromosome inversion, Congenital disorders
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