Table 1.

Chromosomal rearrangements, patients’ phenotypes, and disrupted genes

Patienta	Karyotype	Phenotype	Gene disruption
1	46,X,t(X;7)(q13;p15)	ID, primary amenorrhea	Xq13.1	EDA
			7p21.1	–
2	46,X,t(X;3)(q13.3;q11.2)	ID, primary amenorrhea	Xq13.3	NEXMIF
			3q11.2	–
3	46,X,t(X;9)(q13.3;cen)	Primary amenorrhea	Xq13.3	ZDHHC15
			9cen	–
4	46,X,t(X;1)(q13;p34)	Primary amenorrhea	Xq21.1	–
			1p34.3	CLSPN
5	46,X,t(X;11)(q21.1;q14.2)	Secondary amenorrhea	Xq21.1	APOOL
			11q14.2	–
6	46,X,t(X;2)(q21.33;q12.1)	Primary amenorrhea	Xq21.33	–
			2q12.1	–

ID intellectual disability

^aPatients 2, 3, 5, and 6 clinically described by Moyses-Oliveira et al. 2019 [30]