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Partial trisomy 15q and partial monosomy 5p due to paternal translocation t(5 ; 15)(p15.3 ; q26.1)

A carrier status for balanced translocation in either of the parents increases the risk of congenital malformation in the offspring. A case of multiple congenital anomalies in a female newborn was found to be associated with partial trisomy 15q and partial monosomy 5p, as a result of a subtle balanced reciprocal translocation, 46, XY, t(5 ; 15)(p15.3 ; q26.1) in the father. The analyses performed on peripheral blood lymphocytes after using the GTG banding method and fluorescence in situ hybridization studies. There were clinical signs of Di George syndrome but FISH analysis for 22q11.2 was negative. The girl´s karyotype was 46, XX, der(5)t(5 ; 15)(p15.3 ; q26.1)pat, and the clinical features were as follows: triangle shaped head, low set ears, high palate, micrognathia, low positioned nipples, hypotonia and systolic murmur of severe congenital heart defect - coarctation of the aorta with long hypoplastic segment of the aortic arch, patent ductus arteriosus, pulmonary hypertension (high grade), persistent foramen ovale, anomalous return of the persistent left vena cava to the left atrium. Brain ultrasound showed intraventricular hemorrhage grade II/III with periventricular leucomalatia and she died 2, 5 months after birth. Only the analysis of long prometaphase chromosomes can detect such a subtle translocation. This couple had a history of two early spontaneous abortions and one healthy boy, who showed the same balanced reciprocal translocation like his father. The most important factor in predicting the viability of the embryo is the size of potentially unbalanced region. The smaller segment of the unbalanced chromosomes makes the higher chances of aneuploid live birth. The genetic counselling and prenatal cytogenetic diagnosis for balanced reciprocal translocation carriers is important in the management of future pregnancies.

Partial trisomy 15q ; Partial monosomy 5p ; Paternal translocation

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