Jotterand M, Juillard E
Hum Genet. 1976 Aug 30;33(3):213-22. doi: 10.1007/BF00286845.
The first child of a mother with a balanced translocation (9;13) revealed a trisomy for the distal third of 13q. Clinical signs were microcephaly, hemangiomata, long incurved eyelashes, strabismus, enlarged bridge of the nose, abnormally long philtrum, high-arched palate, low set ears, hexadactyly of the four extremities, umbilical and inguinal hernias, neonatal respiratory distress, psychomotor and growth retardation. The proband presented also male pseudohermaphroditism and trigonocephaly. This last trait is the object of a discussion in which cases of partial trisomy 13q cited in the literature are considered for study of the incidence of this dyscephaly in this partial syndrome.
一位患有平衡易位（9；13）的母亲的第一个孩子，被发现13号染色体长臂远端三分之一三体。临床体征有小头畸形、血管瘤、长而弯曲的睫毛、斜视、鼻梁增宽、人中异常长、高拱腭、低位耳、四肢多指（趾）畸形、脐疝和腹股沟疝、新生儿呼吸窘迫、精神运动发育迟缓和生长发育迟缓。先证者还表现为男性假两性畸形和三角头畸形。最后这个特征是讨论的对象，在讨论中会考虑文献中引用的13号染色体长臂部分三体病例，以研究这种头部畸形在这种部分综合征中的发生率。
