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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
  1. CMA Chromosome Microarray Analysis; FISH Fluorescence In Situ Hybridization; MLPA Multiplex Ligation-dependent Probe Amplification