Laporte G, Serville F, Peant J
Nouv Presse Med. 1979 Dec 24;8(50):4095-7.
Five members of a kindred with type A1 brachydactyly were ascertained. The middle phalanges of the last four fingers were short, rudimentary or absent, and the proximal phalanges of the thumbs and great toes were shortened. Emergence of the brachydactyly in the children of an unaffected woman suggested the possibility of a half chromatid mutation or of a premutation. The pedigree was then consistant with autosomal dominant inheritance with complete penetrance for brachydactyly.
确定了一个患有A1型短指症的家族中的五名成员。最后四根手指的中节指骨短小、发育不全或缺失，拇指和大脚趾的近节指骨缩短。一名未受影响的女性所生子女出现短指症提示了半染色单体突变或前突变的可能性。该系谱符合常染色体显性遗传，短指症具有完全外显率。
