Favetta S, Artino R, Ponzio G, Restagno G
Divisione di Pediatria, Ospedale Civico di Chivasso, Italia.
Pediatr Med Chir. 1992 Sep-Oct;14(5):551-4.
Cytogenetic investigations gave evidence of pentasomy X in a 3-year-old female with typical facies and psychomotor retardation. The parents and the grandparents showed a normal karyotype. The clinical symptoms of our case were compared with the other authors, we found a low birth weight, short stature, delayed expressive language, multiple abnormalities of craniofacial skeleton and some minor deformities of the arts. The parental origin of the extra set of X chromosome were determined by the restriction fragment length analysis (RFLPs) using the very polymorphic probes M27beta, L1.28 and St14. These data support the hypothesis of a maternal meiotic double non-disjunction.
细胞遗传学研究证实，一名3岁患有典型面容和精神运动发育迟缓的女性存在X染色体五体。其父母及祖父母的核型均正常。将我们病例的临床症状与其他作者的进行比较，发现出生体重低、身材矮小、语言表达延迟、颅面骨骼多处异常以及手部一些轻微畸形。利用多态性极高的探针M27β、L1.28和St14，通过限制性片段长度分析（RFLP）确定了额外一组X染色体的亲本来源。这些数据支持母源性减数分裂双不分离的假说。
