[环状18号染色体 46，XY，r(18)]
[Ring chromosome 18 46,XY,r(18)].
作者信息
Benito E, Serrano A, Moreno F, Espinosa J, Dávila M J, Cardesa J J, Galán E, Rubio J, Zarallo L
出版信息
An Esp Pediatr. 1987 Feb;26(2):121-3.
PMID:3565953
Abstract
Authors report a ring chromosome 18 (18 r) in a four year old boy, with low birth weight, retarded growth and development, microcephaly and plagiocephaly, horizontal nystagmus, ambiguous genitalia, clinodactyly of the fifth finger, distal axial triradius, whorls pattern in 8 fingers in dermatoglyphic. Serum IgA is lower than 3 mg/dl. Parents karyotype is normal.
摘要
作者报告了一名4岁男孩存在18号环状染色体（18r），该男孩出生体重低、生长发育迟缓、小头畸形和斜头畸形、水平眼球震颤、生殖器模糊、第五指屈曲指、远轴三叉点、皮纹学上8个手指有涡纹图案。血清IgA低于3mg/dl。父母的核型正常。
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