Redha M A, Krishna Murthy D S, al-Awadi S A, al-Sulaiman I S, Sabry M A, el-Bahey S A, Farag T I
Medical Genetics Centre, Maternity Hospital, Kuwait.
Ann Genet. 1996;39(1):5-9.
A 3-year-6-month old Lebanese female child with multiple congenital anomalies including, facial dysmorphism, prominent low set ears, micrognathia, anti-mongoloid palpebral fissures and psychomotor retardation was investigated. Her karyotype showed de novo 46, XX, dir dup (7)(p11.2-->pter). The phenotypic manifestations in dir dup (7p) cases are briefly reviewed. Our observations in combination with other similar cases suggest that 7p trisomy due to dir dup (7p) can be regarded as a defined chromosome syndrome.
对一名3岁6个月大的黎巴嫩女童进行了检查，她患有多种先天性异常，包括面部畸形、低位突出耳朵、小颌畸形、反蒙古样睑裂和精神运动发育迟缓。她的核型显示为新发的46, XX, dir dup(7)(p11.2→pter)。本文简要回顾了dir dup(7p)病例的表型表现。我们的观察结果与其他类似病例表明，由dir dup(7p)导致的7p三体可被视为一种明确的染色体综合征。
