DELETIONS OF DIFFERENT SEGMENTS OF THE LONG ARM OF CHROMOSOME-4
DELETIONS OF DIFFERENT SEGMENTS OF THE LONG ARM OF CHROMOSOME-4
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DOI：
10.1002/ajmg.1320080110
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发表时间：
1981-01-01
期刊：
影响因子：
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通讯作者：
HANSON, JW
中科院分区：
文献类型：
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作者：
MITCHELL, JA;PACKMAN, S;HANSON, JW
We report the clinical and chromosomal findings in 8 patients with deletions of the long arm of chromosome 4. Four of these patients appear to have terminal deletions beginning in band 4q31, and therefore, lack the digital 1/3 of the long arm of chromosome 4. We confirm that deletion of 4q31→qter causes a recognizable syndrome, and we further define the phenotype of that syndrome. A 5th patient has a shorter terminal deletion, ie, 4q33→qter. This deletion causes a milder phenotypic expression than that seen in the severe 4q terminal‐deletion syndrome. The remaining 3 patients have interstitial deletions of the long arm of the 4th chromosome, including segments 4q21.1→q25, 4q21.3→q26, and 4q27→q31.3. The phenotypic expression noted in these patients is variable and differs from the 4q terminal‐deletion syndrome.
