A Case of a Derivative Chromosome: der(Y)t(Y;18)Pat with Congenital Abnormalities

Abstract

Background Chromosome reciprocal translocations are frequently occurring structural rearrangements observed in humans. Although individuals with balanced reciprocal translocations tend to be clinically normal, they have an increased risk of reproductive failure, miscarriage and abnormal phenotype.

Casereport: A 14 days old neonate was found to have a 46,X,der(Y)t(Y;18)(q12;q11)pat karyotype causing multiple dysmorphisms and death within one month. The proband inherited from his father(carrier) an abnormal Y chromosome with Yq deletion of regions (q12-qter) and an 18q duplication of regions (q11-qter), resulting in a severe clinical phenotype similar to Edwards syndrome (Trisomy 18 syndrome).

Conclusion These findings expand our current knowledge of the mutation spectrum of Y-autosomal translocations associated with dysmorphosis.

Keywords:

• Derivative chromosome
• trisomy 18
• dysmorphosis

Additional information

Funding

National Natural Science Foundation for Young Scientists of China (Grant No. 81700223); Project founded by China Postdoctoral Science Foundation (No. 2018M633020, P.I.: Yu. Xia); Guangdong Province Science and Technology Planning Project of China (Grant No. 2017A070701013).