| Autor: |
E, Gangbo, D, Lacombe, E M, Alberti, L, Taine, R, Saura, D, Carles |
| Rok vydání: |
2004 |
| Předmět: |
|
| Zdroj: |
Genetic counseling (Geneva, Switzerland). 15(3) |
| ISSN: |
1015-8146 |
| Popis: |
This manuscript reports a fetus of 24 weeks gestation, detected on echography to have congenital anomalies: intra-uterine growth retardation, facial dysmorphism, ventricular septal defect with aortic displacement and 8-mm nuchal skinfold thickness. Karyotype was performed. Post termination of pregnancy autopsy showed additionnal internal organ anomalies included: absent gall bladder and thyroid isthmus agenesis. To our knowledge, these anomalies have never been described in trisomic 22 fetuses. This case suggests that chromosome 22 could play a role in thyroid development. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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