Terminal deletion of the long arm of chromosome 4. Report of a case of 46, XY, del(4)(q31) and review of 4q- syndrome.
Terminal deletion of the long arm of chromosome 4. Report of a case of 46, XY, del(4)(q31) and review of 4q- syndrome.
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4号染色体长臂末端缺失。46、XY、del(4)(q31)病例报告及4q-综合征回顾。
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发表时间：
1981
期刊：
影响因子：
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通讯作者：
A. Hand
中科院分区：
文献类型：
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作者：
C. Yu;H. Chen;R. Baucum;A. Hand
采用Q显带技术，我们最近确定了一个末端缺失的4号染色体长臂的远段的男性婴儿与多个长臂的4号染色体的男性婴儿与多个先天性异常。断点在4 q31。该婴儿有间距过宽、内眦赘皮、鼻梁凹陷、鼻中隔短伴鼻上翻、双侧开放性唇腭裂、后颌和小颌、低位、耳畸形、短颈、乳头远端、骶骨凹陷、尿道下裂、指甲发育不良、重叠趾、猿折痕、趾间和小鱼际区图案、胆囊发育不全和包括三尖瓣闭锁的心脏缺陷，左侧腔静脉和异常的主动脉弓。这个例子是比较八个先前报告的4 q-案件。
Using Q banding technique we recently identified a terminal deletion of the distal segment of the long arm of chromosome 4 in a male infant with multiple long arm of chromosome 4 in a male infant with multiple congenital anomalies. The breakpoint is at 4q31. The infant had hypertelorism, epicanthal folds, depressed nasal bridge, short nasal septum with upturned nose, bilateral open cleft lip and palate, retro- and micrognathia, low set, malformed ear, short neck, distally placed nipples, a sacral dimple, hypospadias, dysplastic nails, overriding toes, simian creases, patterns on interdigital and hypothenar areas, hypoplasia of gallbladder, and cardiac defects consisting of tricuspid atresia, left sided vena cava and anomalous aortic arch. This case is compared to the eight previously reported 4q- cases.