Korean J Perinatol.  2010 Sep;21(3):302-305.

A Case of Partial Trisomy 9 due to Maternal Balanced Translocation t(9;21)(q21.2;q11.2)

Affiliations
  • 1Department of Pediatrics, Soonchunhyang University Hospital, Seoul, Korea. neolee@schmc.ac.kr

Abstract

Trisomy 9 syndrome was first reported by Retheore in 1970 and has been rarely reported. This syndrome consists of partial and complete trisomy 9. It is characterized by growth and mental retardation, craniofacial abnormalities including microcephaly, hypertelorism, prominent nose, deep-set ears and down-slanting palpebral fissures. Congenital heart diseases and congenital dislocations of knee are also common in trisomy 9 syndrome. Here, we report a very rare case of partial trisomy 9 due to maternal balanced translocation t(9;21). He showed craniofacial abnormalities, brain malformation, cardiac defect, hydronephrosis and congenital dislocations of hip and knee joints.

Keyword

Chromosome 9; Trisomy; Congenital anomalies; Balanced translocation

MeSH Terms

Brain
Chromosomes, Human, Pair 9
Craniofacial Abnormalities
Dislocations
Ear
Heart Diseases
Hip
Hydronephrosis
Hypertelorism
Intellectual Disability
Knee
Knee Joint
Microcephaly
Nose
Trisomy
Chromosomes, Human, Pair 9
Trisomy
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