We describe the prenatal diagnosis and fetal phenotype of partial trisomy 12 （p12-pter） transmitted from a maternal reciprocal translocation 6;12.Genetic analysis of umbilical cord blood of a 27-year-old woman

gravida 4

para 1 at 35 weeks’ gestation due to a tricuspid regurgitation and orbital hypertelorism by sonography revealed an unusual karyotype of 46

XY

der （6）t（6;12）（p24;p12）mat.The pregnancy was terminated at 37 gestational weeks.The proband postnatally displayed by dysmorphic features of a round flat face with prominent cheeks and high forehead

hypertelorism

a short nose

a broad and depressed nasal bridge

anteverted nares

a deformed philtrum

an open mouth

thin upper vermilion and broad everted lower lip

low-set ears and aural atresia

broad hands with simian creases

and a short neck.By anatomy

the fetal was found to have right artery catheter vagus

congenital cataract

no turbinate and external auditory canal.Through the karoytpye-phynotpye analysis on the present patient and a review of other reported cases

we believed that the case was the first report

which expanded the database of partial trisomy 12p

and was of benefit for future clinical genetic counseling.At the same time

this study supported the viewpoint that phenotypic variability depends on the type and extent of the associated partial monosomy.