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RECURRENCE OF DIGEORGE-SYNDROME - PRENATAL DETECTION BY FISH OF A MOLECULAR 22Q11 DELETION

被引：22
作者：
VANHEMEL, JO
SCHAAP, C
VANOPSTAL, D
MULDER, MP
NIERMEIJER, MF
MEIJERS, JHC
机构：
[1] ERASMUS UNIV ROTTERDAM,FAC MED,INST PAEDIAT SURG,3000 DR ROTTERDAM,NETHERLANDS
[2] ERASMUS UNIV ROTTERDAM,HOSP DIJKZIGT,DEPT CLIN GENET,ROTTERDAM,NETHERLANDS
[3] UNIV MAASTRICHT,DEPT CLIN GENET,MAASTRICHT,NETHERLANDS
[4] ERASMUS UNIV ROTTERDAM,DEPT CELL BIOL & GENET,3000 DR ROTTERDAM,NETHERLANDS
来源：
JOURNAL OF MEDICAL GENETICS | 1995年 / 32卷 / 08期
关键词：
D O I：
10.1136/jmg.32.8.657
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
We report on a prenatal diagnosis by FISH of a familial 22q11 deletion associated with DiGeorge syndrome (DGS). The deletion was seen in the proband with symptoms of full DGS, in the physically normal father, and in a subsequent pregnancy. After birth this child showed hypocalcaemia, a T cell deficit, and a right sided aortic arch.
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页码：657 / 658
页数：2
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