An aneuploid fetus was detected prenatally by cordocentesis at 27 weeks' gestation following ultrasonographic diagnosis of severe fetal growth retardation and a large diaphragmatic hernia. The fetal karyotype was revealed to be 47,XX,der(22)t(11;22)(q23.3;q11.2) after parental bloods confirmed a bal
โฆ LIBER โฆ
PRENATAL DIAGNOSIS OF SUPERNUMERARY der(22)t(11;22) ASSOCIATED WITH THE DANDY-WALKER MALFORMATION IN A FETUS
โ Scribed by CHIH-PING CHEN; FEN-FEN LIU; SHEAU-WEN JAN; YUH-CHENG YANG; CHUNG-CHI LAN
- Publisher
- John Wiley and Sons
- Year
- 1996
- Tongue
- English
- Weight
- 634 KB
- Volume
- 16
- Category
- Article
- ISSN
- 0197-3851
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โฆ Synopsis
We present the first report of prenatally diagnosed Dandy-Walker malformation with the karyotype of partial trisomy 11 and 22 due to familial translocation t(l1;22)(q23;qll) inherited in three generations. We demonstrate that the Dandy-Walker malformation can be an associated congenital malformation of supernumerary der( )t( 11;22) syndrome and emphasize the importance of chromosomal analysis and genetic counselling in the obstetric management of prenatally diagnosed Dandy-Walker malformation.
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Article
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1997
๐
John Wiley and Sons
๐
English
โ 64 KB
๐ 2 views