Partial Trisomy 2q(2q37.3->qter)and Monosomy 7q(7q34->qter) Due to Paternal Reciprocal Translocation 2;7: A Case Report
Journal of Korean Medical Science
;
: 112-113, 2003.
Article
Dans Anglais
| WPRIM
| ID: wpr-63343
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.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Phénotype
/
Translocation génétique
/
Trisomie
/
Malformations multiples
/
Chromosomes humains de la paire 2
/
Chromosomes humains de la paire 7
/
Avortements à répétition
/
Avortement thérapeutique
/
Maladies chromosomiques
/
Maladies foetales
Limites du sujet:
Adulte
/
Femelle
/
Humains
/
Mâle
/
Grossesse
langue:
Anglais
Texte intégral:
Journal of Korean Medical Science
Année:
2003
Type:
Article
Documents relatifs à ce sujet
MEDLINE
...
LILACS
LIS