A fertile XXXX with 45X/47XXX mosaicism.

@entity1 @entity135 @entity8 @entity154 @entity2208 @entity2007 @entity6 @entity12563 @entity2209 @entity5 @entity8205 @entity2689 @entity14209 @entity444 @entity2008 @entity393 @entity2588
@entity2689 ( @entity2689 ) is a @entity2008 with a frequency of 1/2,000-3,000 among female live births. Characteristic findings are short stature and @entity444 . Short and @entity135 , low posterior hairline, broad chest, widespread nipples, @entity14209 , short 4th and 5th metacarpals, multiple @entity8205 , primary @entity2588 , lack of secondary sexual characteristics, cardiovascular and @entity8 are the most common presentations. Most of the cases are infertile. Spontaneous pregnancy is unusual and the risk for @entity154 , @entity2208 , @entity2209 and @entity2007 is increased. Fifty percent of the @entity1 have classical @entity2689 (45,X). However mosaicism of 45,X/47,XXX is rare and accounts for 1.7% of the @entity2689 cases. Some cases may not reflect the characteristic phenotype. Some cases with normal height, normal menstrual cyclus and fertility have been defined before. The case we present herein is a 26 years old @entity1 who was admitted to our clinic due to recurrent @entity393 . In her medical history she had @entity6 and @entity5 , in her family history her mother had recurrent @entity393 . The @entity1 's first, third, fourth, fifth and sixth pregnancies had resulted in @entity2208 in the first trimester. She had a healthy daughter with 46,XX karyotype from her second pregnancy. A 45,X[8]/47,XXX[12] karyotype was detected by conventional cytogenetic analysis of the @entity1 who did not have dysmorphic findings. The mosaicism was confirmed by FISH analysis with @entity12563 probe. Of the 100 cells evaluated, 65 of them had 3 signals of X chromosome while 35 had 1 signal. We present the case because of its scarcity in the literature.
