INTERSTITIAL DELETIONS WITHOUT PHENOTYPIC EFFECT - PRENATAL-DIAGNOSIS OF A NEW FAMILY AND BRIEF REVIEW

被引:18
作者
BARBER, JCK [1 ]
MAHL, H [1 ]
PORTCH, J [1 ]
CRAWFURD, MD [1 ]
机构
[1] NORTHWICK PK HOSP & CLIN RES CTR,KENNEDY GALTON CTR CLIN GENET,HARROW HA1 3UJ,MIDDX,ENGLAND
关键词
PRENATAL DIAGNOSIS; CHROMOSOME ABNORMALITY; INTERSTITIAL DELETION; CHROMOSOME-11; NORMAL PHENOTYPE;
D O I
10.1002/pd.1970110613
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
A 39-year-old woman (G4P1SAB2) was referred for amniocentesis for advanced maternal age. An interstitial deletion of the G-dark band 11p12 was found in the fetus. Blood from the mother and her previous son was cultured and the same deletion was found in both. The absence of phenotypic effect in this family further confirms that G-dark euchromatic deletions are compatible with a normal phenotype, and underlines the importance of checking familial karyotypes even when apparently unbalanced structural rearrangements are found at prenatal diagnosis.
引用
收藏
页码:411 / 416
页数:6
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