J Korean Med Sci.  2003 Feb;18(1):112-113. 10.3346/jkms.2003.18.1.112.

Partial Trisomy 2q(2q37.3->qter)and Monosomy 7q(7q34->qter) Due to Paternal Reciprocal Translocation 2;7: A Case Report

• Lee YH
• Ahn JM
• Koo DH
• Kwon KW
• Lee YK
• Lee HH
• Nam KH
• Lee KH

• KMID: 1099804
• DOI: http://doi.org/10.3346/jkms.2003.18.1.112

Abstract

We report an unbalanced translocation involving chromosome 2 and 7 due to a balanced reciprocal translocation 2;7 in the father. The female fetus had a partial trisomy of the long arm of chromosome 2 with a partial monosomy of distal 7q. Ultrasound at the first trimester had indicated normal fetal anatomy, including normal intracranial structures. Parental karyotypes showed a paternal balanced translocation: 46,XY,t(2;7)(q37.3;->q34). The unbalanced translocation in the fetus resulted in trisomy for 2q37.3 qter and monosomy for 7q34->qter. Postnatal examination showed that the female abortus had a cleft lip and palate, and mild dysmorphic features. The clinical phenotype was in agreement with previous descriptions and allowed us to propose a fetal phenotype for this chromosomal abnormality.

Keyword

Prenatal Diagnosis; Chromosomes; Human; Pair 2; Trisomy 2q; Monosomy 7q; Translocation 2;7

MeSH Terms

Abnormalities, Multiple/embryology
Abnormalities, Multiple/genetics*
Abortion, Habitual/genetics
Abortion, Therapeutic
Adult
Chromosome Disorders/embryology
Chromosome Disorders/genetics*
Chromosomes, Human, Pair 2/ultrastructure*
Chromosomes, Human, Pair 7/ultrastructure*
Female
Fetal Diseases/genetics
Fetal Diseases/pathology
Fetus/abnormalities*
Human
Male
Monosomy*
Phenotype
Pregnancy
Translocation (Genetics)*
Trisomy*