A PATIENT WITH WOLF-HIRSCHHORN-SYNDROME ORIGINATING FROM TRANSLOCATION-T(4-8)(P16.3-Q24.3)PAT

被引:9
作者
ELRIFAI, W
LEISTI, J
KAHKONEN, M
PIETARINEN, A
ALTHERR, MR
KNUUTILA, S
机构
[1] UNIV HELSINKI, DEPT MED GENET, HELSINKI, FINLAND
[2] NATL RES CTR, DEPT HUMAN GENET, CAIRO, EGYPT
[3] HOSP REG SPECIAL CARE HANDICAPPED PERSONS, RAVANIEMI, FINLAND
[4] GENOM & STRUCT BIOL NATL LAB LOS ALAMOS, DIV LIFE SCI, LOS ALAMOS, NM USA
关键词
D O I
10.1136/jmg.32.1.65
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
We present here a 7 year old girl with the clinical signs of Wolf-Hirschhorn syndrome (WHS). Only on high resolution banding was a deletion of 4p16.3 suspected in both the proband and the father. Further studies using simultaneous R banding and FISH, with cosmid probe pc847.351 containing the mildly repetitive fragment 847EC, confirmed the diagnosis and showed a paternal balanced translocation t(4;8)(p16.3;q24.3).
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页码:65 / 67
页数:3
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