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
em En
| WPRIM
| ID: wpr-63343
Biblioteca responsável:
WPRO
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.
Palavras-chave
Texto completo:
1
Base de dados:
WPRIM
Assunto principal:
Fenótipo
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Translocação Genética
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Trissomia
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Anormalidades Múltiplas
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Cromossomos Humanos Par 2
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Cromossomos Humanos Par 7
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Aborto Habitual
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Aborto Terapêutico
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Transtornos Cromossômicos
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Doenças Fetais
Limite:
Adult
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Female
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Humans
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Male
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Pregnancy
Idioma:
En
Revista:
Journal of Korean Medical Science
Ano de publicação:
2003
Tipo de documento:
Article
País de publicação:
COREA DEL SUR
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COREIA DO SUL
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KR
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SOUTH KOREA