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  • Title: 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.
    Author: Mechoso B, Vaglio A, Quadrelli A, Mark HF, Huang XL, Milunsky A, Quadrelli R.
    Journal: Fetal Diagn Ther; 2007; 22(4):249-53. PubMed ID: 17369689.
    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.
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