THE CRITICAL MONOSOMIC SEGMENT INVOLVED IN 4P- SYNDROME - A HIGH-RESOLUTION BANDING STUDY ON 5 INHERITED CASES
THE CRITICAL MONOSOMIC SEGMENT INVOLVED IN 4P- SYNDROME - A HIGH-RESOLUTION BANDING STUDY ON 5 INHERITED CASES
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DOI：
10.1007/bf01876498
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发表时间：
1984-01-01
期刊：
影响因子：
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通讯作者：
KIMOTO, H
中科院分区：
文献类型：
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作者：
NARAHARA, K;HIMOTO, Y;KIMOTO, H
在试图确定关键单体节段参与4p.sbd综合征，精确的断点5例遗传性综合征进行了研究，使用高分辨率显带技术。5例患者的诊断年龄从新生儿到15个月，其中4例临床诊断为4p.sbd综合征。常见的临床特征包括智力低下、低出生体重、生长障碍、张力减退、小头畸形、特殊的面部畸形和耳部畸形。核型为46，XX，-4，+der（4），t（4;21）。（p16.1;q22.3）患者; 46，XX，-4，+der（4），inv ins（4;9）（p15.32p16.3;q34.3）pat 46，XX，rec（4），del p，inv（4）（p15.2q35）pat;和46，XX，-4，+der（4），t（4;18）（p15.2;11.21）mat（2例，相关）。显然，4p 16带近端一半的单体性足以表达4p综合征。
In an attempt to determine the critical monosomic segment involved in 4p.sbd.syndrome, the precise breakpoints of 5 inherited cases with the synmdrome were studied using a high-resolution banding technique. The 5 patients ranged in age at diagnosis from newborn to 15 mo., 4 of whom coudl be clinical diagnosed as having 4p.sbd.syndrome. Common clinical features included mental retardation, low birth weight, growth failure, hypotonia, microcephaly, peculiar facial dysmorpia and ear malformations. Karyotypesof the 5 were 46,XX,-4,+der(4),t(4;21) (p16.1;q22.3)pat; 46,XX,-4,+der(4), inv ins(4;9)(p15.32p16.3;q34.3)pat 46,XX,rec(4),del p,inv(4)(p15.2q35)pat; and 46,XX,-4,+der(4),t(4;18) (p15.2;11.21)mat (2 cases, related). Evidently, monosomy for the proximal half of the 4p16 band is sufficient to express 4p-syndrome.