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.
Artigo
em Inglês
| 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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Fenótipo
/
Translocação Genética
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Trissomia
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Anormalidades Múltiplas
/
Cromossomos Humanos Par 2
/
Cromossomos Humanos Par 7
/
Aborto Habitual
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Aborto Terapêutico
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Transtornos Cromossômicos
/
Doenças Fetais
Limite:
Adulto
/
Feminino
/
Humanos
/
Masculino
/
Gravidez
Idioma:
Inglês
Revista:
Journal of Korean Medical Science
Ano de publicação:
2003
Tipo de documento:
Artigo
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