Prenatal cytogenetic diagnosis was performed in a woman who has abnormal offspring with development delay and multiple congenital anomalies. Cytogenetic analysis of the amniotic fluid cells revealed a balanced reciprocal translocation carrier
between 2q
and 12q. Cytogenetic investigation of both parents showed a normal male karyotype in the father, whereas the mother's karyotype revealed a balanced translocation with a 46, XX, t(2 ; 12)(q37.2 : q23) chromosome complement. The abnormal
offspring's
karyotypes was interpreted as an unbalanced translocation with a 46,XX,-2,+der(2)t(2 ; 12)(q37.2 ; q23), resulting in parital monosomy 2q and partial trisomy 12q. Chromosomal rearrangement of the mother was examined with high resolution
G-banding,
RBG-banding and fluorescence in situ hybridization using whole chromosome probe. The cytogenetic and clinical abnormalities of the malformed baby are compared with other known patients with terminal delation of chromosome 2 and duplication of the
distal
long arm of chromosome 12.
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