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

作者：Mechoso Burix; Vaglio Alicia; Quadrelli Andrea; Mark Hon Fong L; Huang Xin Li; Milunsky Aubrey; Quadrelli Roberto^*

来源：Fetal Diagnosis and Therapy, 2007, 22(4): 249-253.

DOI：10.1159/000100784

• complex chromosome rearrangements
• prenatal/postnatal diagnosis
• fluorescence in situ hybridization
• comparative genomic hybridization
• genetic counseling

Objective: To describe a de novo complex chromosome rearrangement (CCR) detected prenatally and studied after birth. 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)(?p11 q13) 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.

• 出版日期2007
• 单位河北医科大学