Arens Y H, Toutain A, Engelen J J, Offermans J P, Hamers A J, Schrander J J, Pulles-Heintzberger C F, Schrander-Stumpel C T
Department of Clinical Genetics, Academic Hospital Maastricht, The Netherlands.
Genet Couns. 2000;11(4):347-54.
Two patients with a trisomy 7p are reported. Both were assessed by facial dysmorphism and congenital anomalies. In one of the patients trisomy 7p was a de novo event, in the other patient unbalanced inheritance of a parental translocation caused trisomy 7p. Developmental delay was severe in both. Our 2 cases are compared with patients reported in literature.
报告了两名7号染色体短臂三体（7p三体）患者。对两名患者均进行了面部畸形和先天性异常评估。其中一名患者的7p三体为新发事件，另一名患者因亲本易位的不平衡遗传导致7p三体。两名患者均有严重的发育迟缓。将我们的2例病例与文献中报道的患者进行了比较。
