9号染色体短臂部分单体综合征——1例合并甲状腺功能减退的病例。
Partial 9p monosomy--a case with hypothyroidism.
作者信息
Ioan D, Dumitriu L, Muşeţeanu P, Bereliuc L, Belengeanu V, Maximilian C
出版信息
Endocrinologie. 1985 Oct-Dec;23(4):279-81.
PMID:4089505
Abstract
A 4-yr-old boy with psycho-motor retardation, microcephaly, flat occipital, mongoloid slant, macrostomia with thickened lower lip and long filiform fingers is presented. Cytogenetically, the boy presents a "de novo" terminal 9p deletion. Complex endocrine exploration reveals the presence of hypothyroidism.
摘要
报告一名4岁男孩，有精神运动发育迟缓、小头畸形、枕部扁平、内眦赘皮、大口畸形伴下唇增厚及细长指。细胞遗传学检查显示该男孩存在“新发”9号染色体短臂末端缺失。综合内分泌检查发现存在甲状腺功能减退。
Zotero 插件