Dandy-Walker malformation in a fetus with pentasomy X (49,XXXXX) prenatally diagnosed by fluorescence in situ hybridization technique.
We present the case of a pentasomy X (49,XXXXX) prenatally diagnosed. The fluorescent in situ hybridization technique assisted in making the diagnosis. The problems identified in this fetus include a Dandy-Walker malformation, hydrocephaly, ventricular septal defect, hypertelorism and polyhydramnios.
Myles
T D
TD
Department of Maternal Fetal Medicine, University of Illinois at Chicago 60612-7313, USA.
Burd
L
L
Font
G
G
McCorquodale
M M
MM
McCorquodale
D J
DJ
D000328:Adult; D000782:Aneuploidy; D003616:Dandy-Walker Syndrome / Q000235:genetics*; D005260:Female; D006801:Humans; D006849:Hydrocephalus / Q000000981:diagnostic imaging / Q000235:genetics; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D006831:Polyhydramnios / Q000000981:diagnostic imaging; D011247:Pregnancy; D011296:Prenatal Diagnosis; D016216:Ultrasonography, Prenatal; D014960:X Chromosome