Occurrence of mosaic trisomy 22 and pericentric inversion of chromosome 9 in a patient with a good prognosis

Abstract

Complete trisomy 22 is a rare chromosomal condition that is incompatible with life. However, mosaic trisomy 22 usually has prolonged survival compatibility and may present a good prognosis depending on the tissues affected. Herein, we described a male patient with the occurrence of mosaic trisomy 22 associated with the inversion of chromosome 9, with karyotype 47, XY, inv (9) (p11q13), + 22 [5] / 46, XY, inv(9) (p11q13) [45] and arr 22q11.1 ~ q13.33(16,417008-51,219,009)x2 ~ 3. It is not possible to infer, in general, the clinical characteristics associated with mosaic trisomy 22. However, the patient presented common clinical features observed in reported cases (in parentheses the percentage observed comparing all reported cases): facial dysmorphia (100%), delay in motor development/growth (82%), cardiac abnormalities (73%), ear abnormalities (55%) and facial and/or body asymmetry (55%), in addition to hypotonia, skin spots, hypoplastic nails. Given the survival and quality of life associated with multidisciplinary treatment, it can be concluded that the patient has a good prognosis. Conclusively, we’re presenting the occurrence of mosaic trisomy 22 and chromosome 9 inversion in the patient with favorable prognosis. Thus, this study proposed a guide which should be inserted in databases of rare genetic conditions to help genetic counselors define mosaic trisomy 22 diagnosis.

Trisomy 22 Mosaicism from Prenatal to Postnatal Findings: A Case Series and Systematic Review of the Literature

“…Among them, only peer-reviewed studies in English were selected, divided in prenatal and postnatal and then sorted by year of publication. Postnatal studies reporting patients with complex rearrangements [ 12 , 13 , 14 ] or describing multiple cell lines [ 15 ] or providing insufficient evidence [ 16 ] were excluded from the postnatal cohort, along with papers that were not possible to retrieve. All cases described both prenatally and postnatally were counted once, leading to a final number of 28 articles being included, reporting a total of 18 prenatal and 25 postnatal cases.…”

“…Moreover, especially in postnatal settings, it is important to keep in mind that composite phenotypes might derive from the co-occurrence of complex rearrangements in association with mT22. Such reports have been previously described in the literature [ 13 , 14 , 46 , 74 ], and a detailed description of such cases goes beyond the scope of this review.…”