Bender B G, Puck M H, Salbenblatt J A, Robinson A
Clin Genet. 1984 May;25(5):435-45. doi: 10.1111/j.1399-0004.1984.tb02013.x.
Four infants identified through neonatal screening programs are an unselected sample of 47,XYY boys. No consistent physical stigmata or medical disorders were identified. Three have increased height. All four demonstrated problems in motor and language development. Although their intelligence is within the average range, all four have language-related learning disorders requiring special education. Mild depression was apparent in all four, perhaps as a secondary result of their learning disorders. Some of the problems seen in the propositi are found in milder forms in other family members, leading to the hypothesis that their karyotype may heighten vulnerability to pre-existing familial conditions. Similarities between these findings and results from seven other study centers with a total of 42 47,XYY boys are noted. Parents of a prenatally diagnosed 47,XYY fetus seen in our center are informed that the extra Y chromosome represents a risk factor for these problems, but that environment remains a primary force in shaping their child's development.
通过新生儿筛查项目确定的4名男婴是47,XYY男孩的非选择性样本。未发现一致的身体特征或医学病症。3名男婴身高较高。所有4名男婴均表现出运动和语言发育方面的问题。尽管他们的智力在平均范围内,但所有4名男婴都有与语言相关的学习障碍,需要接受特殊教育。所有4名男婴均有轻度抑郁,这可能是他们学习障碍的继发结果。先证者中出现的一些问题在其他家庭成员中以较轻的形式出现,这导致了一种假设,即他们的核型可能会增加对先前存在的家族性疾病的易感性。注意到这些发现与其他七个研究中心对总共42名47,XYY男孩的研究结果之间的相似性。在我们中心接受产前诊断为47,XYY胎儿的父母被告知,额外的Y染色体是这些问题的一个风险因素,但环境仍然是塑造孩子发育的主要力量。