A complex mosaicism 45,X/46,X,del(Xq)/46,X,idic(Xq) in a patient with secondary amenorrhea.
A complex mosaicism involving the X chromosome was found in a 35-year-old female affected by secondary amenorrhea and short stature. Her karyotype was: 45,X[20]/46,X,del(X)(pter-->q26::qter)[15]/46,X,idic(X)(pter-->q26::q26-->pter)[9]. No cell contained both abnormal X chromosomes. This observation would suggest a possible mechanism underlying the formation of isodicentric chromosomes.
Calvano
S
S
Medical Genetics Service, IRCCS-CSS Hospital, San Giovanni Rotondo (Fg), Italy.
de Cillis
G P
GP
Croce
A I
AI
Perla
G
G
Notarangelo
A
A
Zelante
L
L
D000293:Adolescent; D000328:Adult; D000568:Amenorrhea / Q000209:etiology / Q000235:genetics*; D041321:Chromosomes, Human, X; D005260:Female; D006801:Humans; D009030:Mosaicism; D012729:Sex Chromosome Aberrations; D025064:Sex Chromosome Disorders / Q000235:genetics*