De Silva D, Duffty P, Booth P, Auchterlonie I, Morrison N, Dean J C
Department of Medical Genetics, Medical School, Foresterhill, Aberdeen, UK.
Clin Dysmorphol. 1995 Oct;4(4):294-303. doi: 10.1097/00019605-199510000-00004.
We describe three unrelated, Scottish infants with the velocardiofacial/DiGeorge syndrome, all of whom have deletions of chromosome 22q11. Two of the infants had inherited the deletion from their mothers; the third infant's mother had clinical features although a deletion was not demonstrable in her. One infant had craniosynostosis associated with broad thumbs which may be a separate familial trait; however, at least one other 22q11 deleted individual with craniosynostosis is known and it is possible that craniosynostosis is a rare feature of this deletion syndrome. The second infant is the third reported case with isolated hypoparathyroidism and dysmorphic features associated with the 22q11 deletion. The variable clinical phenotype of these families with 22q11 deletion is discussed and compared with other reported families.
我们描述了三名患有心脏颜面综合征/迪格奥尔格综合征的苏格兰婴儿，他们并无亲缘关系，且均存在22q11染色体缺失。其中两名婴儿从母亲那里遗传了这种缺失；第三名婴儿的母亲有临床特征，尽管在她身上未检测到缺失。一名婴儿患有颅缝早闭并伴有宽阔拇指，这可能是一种单独的家族特征；然而，已知至少还有一名22q11缺失的个体患有颅缝早闭，颅缝早闭有可能是这种缺失综合征的一种罕见特征。第二名婴儿是第三例报告的伴有孤立性甲状旁腺功能减退和与22q11缺失相关的畸形特征的病例。我们讨论了这些22q11缺失家族的可变临床表型，并与其他报告的家族进行了比较。
