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Korean Journal of Obstetrics & Gynecology 2001;44(10):1931-1936.
Published online October 1, 2001.
A Case of Terminal Deletion of Chromosome 13q.
Jung Ryeol Lee, Byoung Jae Kim, Dae Ho Kim, Byung Chul Jee, Joong Shin Park, Jong Kwan Jun, Bo Hyun Yoon, Shin Yong Moon, Hee Chul Syn
1Department of Obstetrics and Gynecology, Seoul National University College of Medicine, Seoul, Korea.
2Department of Obstetrics and Gynecology, College of Medicine, Cheju National University, Cheju, Korea.
The 13q deletion syndrome was described firstly by Allderdice et al. in 1969. Common findings include fetal growth restriction, microcephaly, other central nervous system malformations, eye abnormalities, characteristic facial appearance, congenital heart defects, gastrointestinal anomalies, vertebral, limb, and perineal defects, and varying degrees of mental retardation. We report a case of terminal deletion of chromosome 13q. Conventional cytogenetic result from amniocytes was 46,XY,del(13)(q32). The prenatal ultrasonographic findings were fetal growth restriction, oligohydramnios, microcephaly, ventriculomegaly and clubfoot. Gross anomalies after delivery included microcephaly, low set ears, absent thumbs, club foot, partial syndactyly of 4th and 5th toes, ambiguous genitalia, and imperforate anus. In addition to characteristic features of 13q terminal deletion, cleft lip and palate was found in our case. Cytogenetic abnormality probably results from phenotypically normal mother, whose karyotype was 46,XX,inv(3)(p26q13.1),t(13;20)(q32;p13) from lymphocytes.
Key Words: Chromosome 13, Terminal deletion

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