[Chromosome X with partial long arm deletion. Three cases].
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.
Teyssier
M
M
Laboratoire d'Histologie-Embryologie-Biologie de la Reproduction, Faculté de Médecine Lyon-Nord.
Charrin
C
C
D000293:Adolescent; D000328:Adult; D002872:Chromosome Deletion; D005260:Female; D006801:Humans; D007247:Infertility, Female / Q000209:etiology; D007621:Karyotyping; D010641:Phenotype; D012729:Sex Chromosome Aberrations / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D014424:Turner Syndrome / Q000235:genetics / Q000473:pathology; D014960:X Chromosome
Chromosome X avec délétion partielle du bras long. A propos de 3 observations.