Display Settings:

Format

Send to:

Choose Destination
See comment in PubMed Commons below
Am J Med Genet. 1994 Mar 1;50(1):21-7.

Prenatal diagnosis of partial trisomy 1q using fluorescent in situ hybridization.

Author information

  • 1Department of Cellular and Structural Biology, University of Texas Health Science Center, San Antonio 78284-7762.

Abstract

We report the use of fluorescent in situ hybridization (FISH) with a DNA library of chromosome 1-specific probes to confirm the karyotype, 46,XY,15+der15,t(1;15)(q32.1; q26.3), obtained by prenatal periumbilical blood sampling from a fetus who exhibited multiple abnormalities by ultrasound examination. GTG-banding of chromosomes obtained from the mother showed a normal karyotype, while the father was unavailable for study. The propositus was born at 37 weeks gestation and survived for several weeks. Cytogenetic analysis performed after the birth of the male infant with multiple anomalies verified partial trisomy 1q. This patient is compared with other partial trisomy 1q patients reported in the literature. The usefulness of FISH is demonstrated in situations where fetal abnormalities are present with de novo chromosomal rearrangements where paternal chromosomes are unavailable for study.

PMID:
8160748
[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Loading ...
    Write to the Help Desk