A recognizable phenotype in a child with partial duplication 13q in a family with t(10q;13q).
A case of partial duplication 13q14 leads to qter is reported in a 9-year-old male with clinical symptoms which include trigonocephaly and synophrys, producing an easily identifiable phenotype. The chromosome duplication resulted from a familial t(10;13)(qtr;q14). Subsequently, a normal balanced carrier sibling was diagnosed prenatally.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics; D002871:Chromosome Banding; D025063:Chromosome Disorders; D002901:Chromosomes, Human, 13-15; D005817:Genetic Counseling; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D012886:Skull / Q000002:abnormalities; D014178:Translocation, Genetic