Chracteristic physical featuresinclude congenital
lymphoedema of hands and / or feet, short stature, short / webbed
neck, low posterior hairline, cubitus valgus, nail hypoplasia, broad
chest, infertility, left sided cardiac anomalies. Similar phenotype
in XX / XO mosaic, XdeIX, XiX.
46XX / 45X+mer (mar may be Y der) at risk of malignancy. Presence
of Y chromosome sequences predisposes to gonadoblastome formation
with risk of 15 - 25% (Patsalis).
rX and uniparental and functional X disomy, associated with mental
retardation.
Critical region Xcen-p11 (Therman). |
