A de novo complex chromosome rearrangement involving chromosomes 2, 3, 5, 9 and 11 detected prenatally and studied postnatally by conventional cytogenetics and molecular cytogenetic analyses

Fetal Diagn Ther. 2007;22(4):249-53. doi: 10.1159/000100784. Epub 2007 Mar 16.

Abstract

Objective: To describe a de novo complex chromosome rearrangement(CCR) detected prenatally and studied afterbirth.

Methods: Conventional cytogenetics and fluorescent in situ hybridization (FISH) were performed on amniotic fluid and peripheral blood. High-resolution comparative genomic hybridization (HR-CGH) analysis was made postnatally.

Results: Prenatal/postnatal cytogenetic, FISH and HR-CGH analyses revealed an apparently balanced de novo CCR ascertained as 46,XY,t(2; 3;9)(q21;p24;q22),der(5)inv(5)(?p11q13)t(5; 11)(?p13;q25),ins(5; 3)(?p13;?p23p24). At 9 months,the child has neither congenital anomalies nor evidence of delayed psychomotor development.

Conclusions: Our report describes a rare CCR detected prenatally and shows the usefulness of FISH and CGH in complementing conventional cytogenetics.

MeSH terms

  • Adult
  • Chromosome Aberrations / embryology*
  • Chromosome Banding
  • Chromosomes, Human, Pair 11*
  • Chromosomes, Human, Pair 2*
  • Chromosomes, Human, Pair 3*
  • Chromosomes, Human, Pair 5*
  • Chromosomes, Human, Pair 9*
  • Cytogenetic Analysis / methods*
  • Female
  • Genetic Counseling
  • Genetic Testing
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant
  • Live Birth
  • Nucleic Acid Hybridization
  • Pregnancy
  • Prenatal Diagnosis / methods*