Turleau C, De Grouchy J, Roubin M, Chavin-Colin F, Cachin O
Ann Genet. 1975 Jun;18(2):125-9.
A case is reported of "pure" trisomy 9p: 47,XX,+del(9) (q11). The affected 6-year-old girl has moderate psychomotor retardation (IQ near 70), with speech retardation. She is mildly dysmorphic, with the characteristic features of trisomy 9p: a "worried look", a unilateral grin, slant of the palpebral fissures, a globulous nose, brachymesophalangia and the characteristic dermatoglyphic features. The parents karyotypes are normal, except for one cell from the father which had the karyotype 46,XY,del(9)(q11), the implications of which are discussed.
报告了一例“纯”9号染色体短臂三体病例：47,XX,+del(9)(q11)。患病的6岁女孩有中度精神运动发育迟缓（智商接近70），伴有语言发育迟缓。她有轻度畸形，具有9号染色体短臂三体的特征性表现：“忧虑面容”、单侧口角上翘、睑裂倾斜、球状鼻、中节指骨短缩以及特征性的皮纹特征。父母的核型正常，但父亲的一个细胞具有46,XY,del(9)(q11)核型，文中对其意义进行了讨论。
