A rare case of interstitial del(1)(p34.3p36.11) diagnosed prenatally.
We report a very rare constitutional interstitial deletion of chromosome 1p defined within 1p34.3-36.11 bands with an intact pter. The diagnosis was made by standard cytogenetics and fluorescence in situ hybridization (FISH) studies on a cordocentesis specimen obtained at 21 weeks gestation. Termination of pregnancy was performed at 22 weeks gestation due to the ultrasound diagnosis of congenital heart disease. Autopsy confirmed congenital heart disease (cardiomegaly, Ebstein's anomaly, secundum atrial septal defect, subendocardial fibroelastosis), pulmonary lymphangiectasis, a high arched palate, short neck, and bilateral long proximally implanted thumbs. To our knowledge, this is the first case of del(1) (p34.3p36.11) diagnosed prenatally.
Yang
Hua
H
Department of Pathology, and Laboratory of Medicine, IWK Health Centre, 5850 University Avenue, Halifax, Nova Scotia B3H 1V7, Canada.
Lee
Christine L Y
CL
Young
David C
DC
Shortliffe
Michelle
M
Yu
Weiming
W
Wright
James R
JR
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology*; D000328:Adult; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D005260:Female; D005333:Fetus; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis; D032681:Spectral Karyotyping