Authors
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
Publication date
2001
Journal
Korean Journal of Obstetrics and Gynecology
Pages
1931-1936
Description
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.
Total citations
Scholar articles
JR LEE, BJ KIM, DH KIM, BC JEE, JS PARK, JK JUN… - Korean Journal of Obstetrics and Gynecology, 2001