Prenatal detection of a subtle unbalanced chromosome rearrangement by karyotyping, FISH and array comparative genomic hybridization.

Abstract

OBJECTIVES:

To explore the advantages and limitations of comparative genomic hybridization to BAC arrays (array CGH) for prenatal diagnosis of a fetus with anomalies and a chromosome abnormality.

METHODS:

We used karyotype analysis, FISH and array CGH to investigate an unbalanced chromosome rearrangement.

RESULTS:

We report a case of a fetus with ultrasound anomalies at 11 weeks' gestation and an unbalanced chromosome translocation [46,XX,der(13)t(2;13)(p25.1;q32)pat]. Initially, a chromosome 13 deletion was reported from G-banded chromosome analysis and 13q subtelomere FISH. The involvement of chromosome 2 was determined after a balanced translocation was identified in the father, 46,XY,t(2;13)(p25.1;q32). Array CGH confirmed the fetal abnormality as partial trisomy of the short arm chromosome 2 and partial monosomy of the long arm of chromosome 13. The abnormalities identified by ultrasound studies and autopsy appear to be most consistent with 13q deletion syndrome.

CONCLUSIONS:

Array CGH successfully identified a subtle unbalanced chromosome complement in a fetus with multiple ultrasound anomalies. If array CGH had been performed along with the fetal karyotype, the cryptic partial trisomy 2 could have been identified in a more timely manner to assist in the prenatal counseling of this family.

• Authors: Colyn Cargile Cain, Daniel O Saul, Erin Oehler, Karin Blakemore, Gail Stetten
• Journal: Fetal diagnosis and therapy (Fetal Diagn Ther) Vol. 24 Issue 3 Pg. 286-90 ( 2008) ISSN: 1421-9964 [Electronic] Switzerland
• PMID: 18818501 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright 2008 S. Karger AG, Basel.

Topics

• Adult
• Chromosome Disorders (diagnostic imaging, genetics, pathology)
• Chromosomes, Human, Pair 13
• Comparative Genomic Hybridization
• Female
• Fetal Diseases (diagnostic imaging, genetics, pathology)
• Humans
• In Situ Hybridization, Fluorescence
• Karyotyping
• Lymphangioma, Cystic (diagnostic imaging, genetics)
• Pregnancy
• Prenatal Diagnosis (methods)
• Translocation, Genetic
• Ultrasonography, Prenatal