A RARE CASE OF INTERSTITIAL del(1)(p34.3p36.11) DIAGNOSED PRENATALLY Journal Articles

abstract

• 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.

authors

• Yang, Hua
• Lee, Christine LY
• Young, David C
• Shortliffe, Michelle
• Yu, Weiming
• Wright, James

status

• published 

publication date

• January 2004

has subject area

• 1114 Paediatrics and Reproductive Medicine (FoR)
• Abnormalities, Multiple (MeSH)
• Adult (MeSH)
• Chromosome Aberrations (MeSH)
• Chromosome Deletion (MeSH)
• Chromosomes, Human, Pair 1 (MeSH)
• Female (MeSH)
• Fetus (MeSH)
• Humans (MeSH)
• Pathology (Science Metrix)
• Pregnancy (MeSH)
• Prenatal Diagnosis (MeSH)
• Spectral Karyotyping (MeSH)

published in

• Fetal and Pediatric Pathology  Journal

keywords

• Abnormalities, Multiple
• Adult
• Chromosome Aberrations
• Chromosome Deletion
• Chromosomes, Human, Pair 1
• Female
• Fetus
• Humans
• Pregnancy
• Prenatal Diagnosis
• Spectral Karyotyping

Digital Object Identifier (DOI)

• 10.1080/15227950490923624

PubMed ID

• 16095036

start page

• 251

end page

• 255

volume

• 23

issue

• 4