PROBABLE INVERTED TANDEM DUPLICATION OF XP IN A 46,XP+Y-BOY

被引：26

作者：

NARAHARA, K

KODAMA, Y

KIMURA, S

KIMOTO, H

机构：

[1] Department of Pediatrics, Okayama University School of Medicine, Okayama

来源：

JAPANESE JOURNAL OF HUMAN GENETICS | 1979年 / 24卷 / 02期

关键词：

D O I：

10.1007/BF01888928

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A mentally retarded 16 mo. old boy with subnormal stature, strabismus, anteverted nares and deformed ears had a de novo structural rearrangement of the X chromosome (46,Xp + Y). The banding patterns of the abnormal X chromosome suggested an inverted tandem duplication of the segment Xp22.1 .fwdarw. Xp22.3. DNA replication studies with BrdU [bromodeoxyuridine] incorporation showed that the replication pattern of the duplicated segment was similar to the equivalent portion of the X chromosome.

引用

页码：105 / 110

页数：6

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