Table 1 Eleven cases of unbalanced X; autosome translocations

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