论文部分内容阅读
18号染色体短臂缺失综合征是18号染色体的短臂全部或部分缺失的结果,而且可能在常染色体缺失综合征中占居第二位。18号染色体短臂缺失综合征与一种可辩认的临床表型有关,其中至少有10％的病例表现出一定程度的前脑无裂畸形,而单上颌中切牙可以是前脑无裂畸形的轻微表现。以前,伴有单上颌中切牙18号染色体短臂缺失综合征仅有一例报导,本文是第二例。
Shorter-arm deletion syndrome on chromosome 18 is a consequence of the complete or partial deletion of the short arm of chromosome 18 and may occupy the second most frequently found autosomal recessive syndrome. Shorter-arm deletion syndrome on chromosome 18 is associated with a definitive clinical phenotype, at least 10% of which show some degree of anterior misshapen deformity, whereas a single maxillary central incisor may be a non-split Minor manifestations of deformity. Previously, there was only one reported case of a short arm-missing syndrome on chromosome 18 in a single maxillary central incisor. This is the second case.