Jalal S M, Martin J A, Benjamin T R, Kukolich M K, Townsend-Parcham J K
Cytogenetics Laboratory, Mayo Clinic, Rochester, MN 55905.
Ann Genet. 1990;33(3):173-5.
Apparently the first patient with de novo mosaicism 46,XX,t(13q13q)/46,XX,-13,+r(13) is described. The two cell lines were present at a frequency of 34% and 66%, respectively. The infant survived for about three months. The prominent dysmorphic features were: birth-weight and head circumference below the 3rd centile, encephalocele, multiple skin tags of low set dysplastic ears, coloboma of the left iris, short upward slanting palpebral fissures, and prominent nasal root. An imperforate anus, recto-vaginal fistula, enlarged adrenals, missing/hypoplastic kidneys, and limb anomalies were also present. It is postulated that the ring is a secondary anomaly arising from the 13q13q translocation.
显然，本文描述了首例患有从头发生的嵌合体46,XX,t(13q13q)/46,XX,-13,+r(13)的患者。两种细胞系的出现频率分别为34%和66%。该婴儿存活了约三个月。明显的畸形特征包括：出生体重和头围低于第3百分位、脑膨出、低位发育不良耳朵上的多个皮赘、左眼虹膜缺损、睑裂短且向上倾斜以及鼻根突出。还存在肛门闭锁、直肠阴道瘘、肾上腺增大、肾脏缺失/发育不全以及肢体异常。据推测，该环状染色体是由13q13q易位产生的继发性异常。
