Aller V, Abrisqueta J A, Martín-Lucas M A, de Torres M L, del Mazo J, Pérez-Castillo A
An Esp Pediatr. 1979 May;12(5):463-8.
A new case of free 9p trisomy is described. The GTG banding technique and the Giemsa-11 method showed that the extra chromosome comprised precisely the 9pter leads to q12 segment. The carrier is an eleven-year-old male child with typical facial features: globulous nose, antimongoloid slant of palpebral fissures, downward turning of mouth angels and winged ears, severe mental retardation particularly regarding language and characteristic dermatoglyphics.
本文描述了一例新的9号染色体短臂三体病例。GTG显带技术和吉姆萨11法显示,额外的染色体精确地由9号染色体短臂末端至q12节段组成。携带者是一名11岁男童,具有典型的面部特征:球状鼻、睑裂反蒙古样倾斜、口角向下弯曲和招风耳,严重智力发育迟缓,尤其是在语言方面,并有特征性皮纹。