[Chromosome X with partial long arm deletion. Three cases].

J Gynecol Obstet Biol Reprod (Paris)

Laboratoire d'Histologie-Embryologie-Biologie de la Reproduction, Faculté de Médecine Lyon-Nord.

Published: August 1992

X deletions result generally in one or many features characteristic of Turner syndrome but each feature cannot be attribute to a well defined deletion. We present 3 cases of Xq partial deletion: 2 in girls with primary amenorrhea and normal stature, 1 in a patient with secondary amenorrhea and short stature. X inactivation is a complex phenomenon, the mechanism is not yet clear. Inactivation center(s) and active genes on inactive chromosome could explain the manifestation or the absence of clinical symptoms in X deletions.

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