Trisomy 22 with thyroid isthmus agenesis and absent gall bladder.

ABSTRACT

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.