Vianello M G, Cottafava F, Bartoli D, Franzone G, Casazzava R, Gastaldi R
II. Clinica Pediatrica, Università di Genova, Italy.
Ann Genet. 1990;33(1):36-9.
A 46,XX,r(16) "de novo" karyotype is reported in a 4 7/12-year-old girl. In spite of the mild cranio-facial dysmorphism without visceral malformations in r(16) patients, the proband's phenotype is similar to the other four previous case reports. This could support the hypothesis of a specific "r(16) syndrome".
一名4岁7个月大的女孩被报道为46,XX,r(16) “新发”核型。尽管r(16)患者存在轻度颅面部畸形但无内脏畸形，该先证者的表型与之前的其他四份病例报告相似。这可能支持特定“r(16)综合征”的假说。
