Table 1 Cases reported in the literature with r(6)(p25q27)
From: Growth retardation and congenital heart disease in a boy with a ring chromosome 6 of maternal origin
Year | PMID | Karyotype | Molecular technology | Parental karyotype | Duration of follow-up | Clinical phenotype |
|---|---|---|---|---|---|---|
1990 | 2333874 | 46,XX,r(6)(p25q27)/46,XX | not apply | Normal | Born—13 years old | Facial abnormalities, mental retardation, epilepsy |
1996 | 8905901 | 46,XX,r(6)(p25q27)/45,XY,-6/45,XY,-6,+f | not apply | The mother was normal and the father not provide it | Prenatal-17 months | Hydrocephalus, global retardation |
2001 | 11223855 | 46,XY,r(6)(p25q27)/46,XY,dic r(6;6)(p25q27;p25q27)/45,XY,-6 | not apply | The father was normal and in mother there was a Robertsonian translocation | Born—11 years old | Aortic root dilatation |
2013 | 23398904 | 46,XY,r(6)(p25q27) | FISH + CMA | Not provided | sixteen months old | Growth disorders, heart disease, facial abnormalities |
2015 | 26213576 | 46,XX,r(6)(p25q27)/46,XX,dic r(6;6)(p25q27;p25q27)/45,XX,-6 | CMA | Not provided | 3 years old | Periventricular ectopia and white matter abnormalities |
2018 | 30305128 | 46,XY,r(6)(p25.3q27)/46,XY,dic r(6;6)(p25.3q27;p25.3q27)/45,XY,-6 | FISH + CMA | Normal | 11 years old | Stunting, mental retardation, microcephaly |
2018 | 29656294 | 46,XY,r(6)(p25q27)/46,XY,dic r(6;6)(p25q27;p25q27)/45,XY,-6 | FISH + CMA | Normal | 12 years old | Abnormal facial appearance, stunting, heterotopic gray matter |
2018 | 30225942 | 46,XY,r(6)(p25.3q27) | MLPA + CMA | Not provided | Prenatal—2 years old | Anterior segment dysplasia and cardiac abnormalities |
2021 | 8504673 | 46,XX,r(6) (p25q27) | CMA | Normal | 10 years old | Microcephaly, Abnormal facial appearance, hypertelorism, and cardiac abnormalities |