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13P~-而引起的临床效应很少有报道。我们在一个家系中,发现兄弟两人体榜发育迟缓,智力发育较落后,均伴有13P~-。现报告如下: 例1 男,10岁,身材比同龄儿童矮小,智力发育较落后而来就诊。患儿系第2胎,8个月早产,体格发育迟缓,双眼不对称,右眼比左眼增大,小下颌。身高1.20cm,体重22kg,细胞遗传学分析:取外围血常规培养,G显带分析:计数分析33个核型,发现一条13号染色体短臂缺失,核型为46,XY,13P~-。例2 男,5岁,患儿系第3胎,足月顺
13P ~ - caused by the clinical effects rarely reported. In a pedigree, we found that the fraternal twins were slow-growing and their mental development lagged behind. The report is as follows: Example 1 Male, 10 years old, short stature than their peers, mental retardation came to treatment. Children with a second child, 8 months of prematurity, physical retardation, asymmetric eyes, right eye larger than the left eye, small jaw. Height 1.20cm, weight 22kg, cytogenetic analysis: Peripheral blood routine culture, G-banding analysis: count analysis of 33 karyotypes, found a short arm on chromosome 13 missing, karyotype 46, XY, 13P ~ -. Example 2 male, 5 years old, third-child fetus, full-term cis