Funderburk S J, Goldenberg I, Klisak I, Sparkes R S, Westlake J
Hum Genet. 1979;50(2):179-85. doi: 10.1007/BF00390239.
Child patients with mental retardation or psychiatric disorders were selected for the presence of prominent acrocentric chromosome satellites and highest or lowest IQ scores. No correlation was found between IQ scores, of which eleven were below IQ 54 and 16 above IQ 68, and the length of acrocentric short arm, satellite, stalk, or short arm material below the stalk. Conventional staining, quinacrine fluorescence, C banding and ammoniacal silver staining revealed the apparent same acrocentric short arm variation between patient and one parent in eight families studied. These findings suggest that the satellite variants were truly normal variants and not etiologically related to the developmental disorders seen in the patients.
患有智力迟钝或精神疾病的儿童患者因存在明显的近端着丝粒染色体随体以及最高或最低智商分数而被挑选出来。在11名智商低于54且16名智商高于68的患者中,未发现智商分数与近端着丝粒短臂、随体、柄或柄以下短臂物质的长度之间存在相关性。常规染色、喹吖因荧光染色、C带染色和氨银染色显示,在所研究的8个家族中,患者与其一位父母之间近端着丝粒短臂变异明显相同。这些发现表明,随体变异是真正的正常变异,与患者所患发育障碍并无病因学关联。