The Turkish Journal of Pediatrics
2018 , Vol 60 , Num 6
Clinical manifestations in trisomy 9 mosaicism
1 Clinic of Children’s Internal Diseases, Clinical Center Niš, Niš, Serbia
DOI :
10.24953/turkjped.2018.06.015
Pejcic L, Stankovic T, Ratkovic-Jankovic M, Vasic K, Nikolic I.
Clinical manifestations in trisomy 9 mosaicism. Turk J Pediatr 2018; 60: 729-
734.
Trisomy 9 is a rare chromosome abnormality which can occur in a mosaic or
nonmosaic state with similar clinical features. The authors present a male with
mosaic trisomy 9 from birth to 6 months of life. Clinical manifestations included
growth retardation, facial dysmorphism with marked hemi facial hypoplasia and
facial asymmetry, single palmar flexion crease, retro calcaneovalgus feet, atrial
septal defect, undescended testes and hypospadia. He had several episodes
of seizures and ultrasound examination described severe ventriculomegaly,
with poorly differentiated parenchyme. These findings are compared to the
other previously described cases of trisomy 9 mosaicism through a review
of literature.
Keywords :
mosaic trisomy 9, facial asymmetry, developmental delay, children