A case of partial trisomy of the long arm of chromosome 13 with holoprosencephaly

Abstract

 We report a case of partial trisomy of the long arm of chromosome 13 with holoprosencephaly（HPE）in a female child. She had a microcephaly, hypotelorism, nasal septal defect, right cleft lip and palate and polydactyly. A brain magnetic resonance image revealed the lobar HPE. She developed West syndrome at the age of three months and died aged four years and two months. The chromosome karyotype was 46,XX,rec（13）dup（13q）inv（13）（p12q14.1）mat, derived from her mother’s inter-arm inversion. The 13q partial trisomy phenotype is milder than that of 13 trisomy and is reported to have a better prognosis. According to previous reports, HPE is not a common phenotype of partial trisomy 13q. More cases need to be studied to clarify the relationship between the partial trisomy 13q phenotype and duplication site.