How does terminal 21q22 deletion really manifest? Delineation based on prenatal diagnosis and literature review.

Objective: Most genetic disorders, especially rare and manifested with an unspecific constellation of developmental anomalies, are challenging to diagnose before birth. The paper aims to present a rare case of terminal 21q22 deletion to extend the knowledge on this rare genetic disease, mostly to facilitate prenatal guidance by pointing the diagnostic features.

Case Report: The fetus was diagnosed prenatally, at 21 weeks of gestation, due to ultrasound markers detected in a routine ultrasound scan.

Hyperthyroidism secondary to a hydatidiform mole.

The case presented in the article is that of a 47-year-old female patient with hyperthyroidism induced by a hydatidiform mole. Attention was drawn to the necessity of preparing the patient for a procedure with drugs that stabilize the hormonal activity of the thyroid. The removal of the hydatidiform mole resulted in gradual normalization of thyroid hormone levels.