| Autor: |
Gangbo E; Faculté des Sciences de la Santé de Cotonou, 01 BP 188, Cotonou, Bénin., Lacombe D, Alberti EM, Taine L, Saura R, Carles D |
| Jazyk: |
angličtina |
| Zdroj: |
Genetic counseling (Geneva, Switzerland) [Genet Couns] 2004; Vol. 15 (3), pp. 311-5. |
| Abstrakt: |
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: |
MEDLINE |
| Externí odkaz: |
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