Partial trisomy 2q(2q37.3-->qter) and monosomy 7q(7q34--->qter) due to paternal reciprocal translocation 2;7: a case report.
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.
Ahn
Jun Mo
JM
Department of Obstetrics and Gynecology, Korea University Hospital, Seoul, Korea. leejju@unitel.co.kr
Koo
Do Hyeong
DH
Kwon
Kye Won
KW
Lee
You Kyoung
YK
Lee
Yong Ho
YH
Lee
Hae Hyeog
HH
Nam
Kye Hyun
KH
Lee
Kwon Hae
KH
D000015:Abnormalities, Multiple / Q000196:embryology / Q000235:genetics*; D000026:Abortion, Habitual / Q000235:genetics; D000032:Abortion, Therapeutic; D000328:Adult; D025063:Chromosome Disorders / Q000196:embryology / Q000235:genetics*; D002889:Chromosomes, Human, Pair 2 / Q000648:ultrastructure*; D002897:Chromosomes, Human, Pair 7 / Q000648:ultrastructure*; D005260:Female; D005315:Fetal Diseases / Q000235:genetics / Q000473:pathology; D005333:Fetus / Q000002:abnormalities*; D006801:Humans; D008297:Male; D009006:Monosomy; D010641:Phenotype; D011247:Pregnancy; D014178:Translocation, Genetic; D014314:Trisomy