New sonographic findings in a fetus with an interstitial deletion in the long arm of chromosome 14.
BACKGROUND
Interstitial deletions of 14q in which band 14q31 is deleted are uncommon. Malformations such as atrial septal defect, horseshoe kidney, and cryptochidism have been reported.


METHODS
We evaluated sonographically the fetus of a 22-year-old woman between 16 and 20 weeks' gestation. This imaging showed marked dilation of the bladder with mild bilateral hydronephrosis and bilateral dilation of the lateral ventricles. In an amniotic fluid specimen obtained at 17 weeks, chromosomal analysis showed an interstitial deletion of chromosome 14 including band 14q31, designated 46,XY,del(14)(q24.3q32.1).


CONCLUSIONS
This first-reported fetal case of interstitial deletion in chromosome 14 including band 14q31 showed anomalies not seen in the reported postnatal cases.
Department of Obstetrics and Gynecology, Ehime University School of Medicine, Shigenobu, Japan.
H
H
Ochi
K
K
Matsubara
Y
Y
Kusanagi
M
M
Ito
D000328:Adult; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007621:Karyotyping; D011247:Pregnancy; D016216:Ultrasonography, Prenatal