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.
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.
Mechoso
Búrix
B
Instituto de Genética Médica, Hospital Italiano, Montevideo, Uruguay.
Vaglio
Alicia
A
Quadrelli
Andrea
A
Mark
Hon Fong L
HF
Huang
Xin-Li
XL
Milunsky
Aubrey
A
Quadrelli
Roberto
R
D000328:Adult; D002869:Chromosome Aberrations / Q000196:embryology*; D002871:Chromosome Banding; D002880:Chromosomes, Human, Pair 11; D002889:Chromosomes, Human, Pair 2; D002893:Chromosomes, Human, Pair 3; D002895:Chromosomes, Human, Pair 5; D002899:Chromosomes, Human, Pair 9; D020732:Cytogenetic Analysis / Q000379:methods*; D005260:Female; D005817:Genetic Counseling; D005820:Genetic Testing; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D050498:Live Birth; D009693:Nucleic Acid Hybridization; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*