Partial Trisomy 2q(2q37.3->qter)and Monosomy 7q(7q34->qter) Due to Paternal Reciprocal Translocation 2;7: A Case Report.
10.3346/jkms.2003.18.1.112
- Author:
Yong Ho LEE
1
;
Jun Mo AHN
;
Do Hyeong KOO
;
Kye Won KWON
;
You Kyoung LEE
;
Hae Hyeog LEE
;
Kye Hyun NAM
;
Kwon Hae LEE
Author Information
1. Department of Obstetrics and Gynecology, Korea University Hospital, Seoul, Korea. leejju@unitel.co.kr
- Publication Type:Case Report
- Keywords:
Prenatal Diagnosis;
Chromosomes;
Human;
Pair 2;
Trisomy 2q;
Monosomy 7q;
Translocation 2;
7
- MeSH:
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*
- From:Journal of Korean Medical Science
2003;18(1):112-113
- CountryRepublic of Korea
- Language:English
-
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.
