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Table 4 Summary of type “other” (new) for Y/X translocation

From: Comprehensive analysis of three female patients with different types of X/Y translocations and literature review

Detailed results

Gender

Short stature

Mental retard-ation

Head and face retard-ation

Limbs retard-ation

Optic abnormalities

L-W Chondrosclerosis

Psychomotor abnormalities

Gonad abnormalities

46,X,der(X)t(X;Y)(q22;q11)dn [5]

F

+

46,X,psu dic(X)t(X;Y)(q22;p11) [6]

F

+

46,X,der (X)t(X;Y)(p11.2;q11)dn [27]

F

+

+

46,X,der(X)t(X;Y)(q25;q12) [28]

F

+

46,X,der(X)t(X;Y)(q26.2;q11.223) [29]

F

+

46,X,der(X)t(X;Y)(q26.2;q11.223)mat [29]

F

+

46,X,der(X)t(X;Y)(q26.3;q11.223) [30]

F

n

46,X,der (X)t(X;Y)(q28;q11.2)dn [31]

F

+

46,X,der(Y)t(X;Y)(p21.1;q11)dn [32]

F

+

+

+

n

46,X,der(Y)t(X;Y)(p21.2;p11.3) [33]

F

+

+

+

+

46,X,der(Y)t(X;Y)(q13.1;q11.223) [34]

F

+

47,XY,der(Y)t(X;Y)(p21.1;p11.2)* [35]

F

n

+

+

+

46,X,der(Y)t(X;Y)(q28;q11.23)dn [36]

M

+

+

+

46,X,der(Y)t(X;Y)(p21.3;q11.21) [36]

M

+

+

+

+

+

+

46,X,psu dic(X;Y)(p11.3;p11.1) [37]

F

+

n

47,X,der(X)t(X,Y)(p11.4,p11.2)X2[65%]/46,X,der(X)(p11.4,p11.2)[35%]mat [38]

F

+

n

45,X[25%]/46,X,der(X)t(X;Y)(p11.4,p11.2)[75%] [37]

F

+

46,X,psu dic(X;Y)(p22;q11)dn [38]

M

+

+

n

45,der(X)t(X;Y)(p22.3;p11.2)[8]/46,t(X;Y)(p22.3;p11.2)[12] [7]

M

+

46,X,dic(X;Y)(p22.33;p11.32)/45,X/45,dic(X;Y)(p22.33;p11.32) [8]

M

n

+

45,der(X)t(X;Y)(p22;p11.3)ins(X;Y)(p22;q12)[[80]/45,X[20] [40]

M

+

+

n

  1. “+”: with an exception in this regard; “−”: there is no anomaly in this regard; n: this aspect is not described
  2. Type “other” include types 4\5\6\7, type C\D and other karyotypes
  3. M male, F female
  4. *: This patient is a sex reversal case report