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Table 1 Eleven cases of unbalanced X; autosome translocations

From: Molecular cytogenetic characterization of a de novo derivative chromosome X with an unbalanced t(X;9) translocation in a fetus and literature review

Cases Karyotypes XCI Age Clinical features References
1 46,X,der(X)t(X;5)(q27.3;q32)dn Not done 33 y Primary ovarian failure, moderate mental retardation, and mild phenotype of facial dysmorphism [21]
2 46,X,der(X)t(X;1)(q28;q32.1) dn Yes 20 y Premature ovarian failure, mental retardation, class I obesity, mild dysmorphism and delayed secondary sexual characteristics [22]
3 46,X, der(X)t(X;15)(q22;q11.2)dn Yes 3 y Mild phenotype with normal birth measurements, minor facial dysmorphic features (hypertelorism, short broad nose, and a relatively long philtrum), and moderate developmental delay [3]
4 46,X, der(X)t(X;18)(q27;q22)mat Yes 32 y Fully attenuated or Diminished ovarian reserve (DOR) phenotype in the same family [24]
5 46,X,der(X)t(X;4)(q22;q24) Yes 32 y Secondary amenorrhea, physical exam was within normal limits and was negative for any dysmorphic facial features or physical anomalies [25]
6 46,X,der(X)t(X;10)(q26.3;q23.3) Yes 14 y Secondary amenorrhea with no abnormal external physical features [6]
7 46,X,der(X)t(X;8)(q28;q13) Not done 34 y Mild manifestations, including congenital heart disease, epicanthal fold, mild intellectual disability, and menstrual irregularity [19]
8 46,X,der(X)t(X;7)(q26;q35) Yes fetus
30 y
32 y
60 y
A family with 4 women, of 3 different generations, carrying the same cytogenetic anomaly with mild clinical presentation mainly characterized by gynecological/hormonal issues and autoimmune disorders [20]
9 46,X,der(X),t(X;1)(q28;q32.1)dn Yes 11 month Short stature, unusual head shape, mild dysmorphic features, and mild developmental delay [27]
10 46,X,der(X)t(X;10)(q26;q21.2)pat Yes 11 y Developmental delay and craniofacial, chest, and limb dysmorphism [28]
11 46,X,der(X)t(X;9)(q27;p23)dn Not done fetus No apparent abnormalities except for the unclear display of the fetal spine Present study