[4号染色体环。II. 无面部畸形]
[Ring of the chromosome 4. II. Without facial dysmorphism].
作者信息
Chavin-Colin F, Turleau C, Limal J M, de Grouchy J
出版信息
Ann Genet. 1977 Jun;20(2):105-9.
PMID:302682
Abstract
A r(4) was observed in a 5-year-old female patient, with growth retardation, a near normal psychomotor development and with no major dysmorphism. The break points were in p16 and q33. After comparison with other known observations of r(4) it is suggested that the phenotype of monosomy 4p is due to monosomy for the distal band 4p16.
摘要
在一名5岁女性患者中观察到一条r(4)染色体，该患者存在生长发育迟缓，精神运动发育接近正常，且无明显畸形。断点位于p16和q33。与其他已知的r(4)观察结果比较后，提示4p单体型的表型是由于4p16远端带的单体性所致。
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