Xp;Yq Unbalanced Translocation with Pseudoautosomal Region Aberrations in a Natural Two-Generation Transmission

Table 2

Reported males with der(X)t(Xp;Yq) translocations.

Refs.	No.	Karyotype	Origin	Age (years)	Semen analysis	Height (cm)	L/R testis volume (mL)	Other abnormalities
Present study		46,Y,der(X)t(X;Y)(p22.33;q11.22)	Maternal	25	Azoospermia	165	15/15	Normal phenotype
Cheng et al. [6]	1	46,Y,der(X)t(X;Y)(p22;q11.2)	Maternal	1	NP	70.5 cm (<2 SD)	Cryptorchism	Mental retardation and developmental delay, ichthyosis, concealed penis, a small scrotum, an undescended testis in his left lateral inguinal region, and a small testis in the right lateral scrotum.
Bukvic et al. [15]	2	46,Y,der(X),t(X;Y)(p22;q12)	NP	3	NP	88 cm tall (<5th centile)	NP	Brachycephaly, flattened nasal bridge, convergent strabismus, dry and scaly skin, global motor delay, and hyperactive behavior.
Doherty et al. [29]	3	46,Y,der(X)t(X;Y)(p22.3; q11.2).ish der(X) (DXZ1+, KAL+, STS-, SHOX-)	Maternal	24	NP	163	NP	Epilepsy, X-linked ichthyosis, Madelung deformities, mesomelia, normal intelligence, and attention deficits.
	4	46,Y,der(X)t(X;Y)(p22.3; q11.2).ish der(X) (DXZ1+, KAL+, STS-, SHOX-)	Maternal	23	NP	157	NP	Epilepsy, X-linked ichthyosis, Madelung deformities, mesomelia, normal intelligence, and attention deficits.
Ha et al. [30]	5	46,Y,der(X)t(X;Y)(p22.3;q11.2)	Maternal	3	NP	NP	Cryptorchism	Hypertelorism, clinodactyly, ear anomaly, simian crease, renal anomalies, and mild mental retardation.
Yen et al. [5]	6	46,Y,t(X;Y)(p22.3;q11.2)	Maternal	13 months	NP	NP	NP	Severe developmental delay, seizures, and ichthyosis.
Gabriel-Robez et al. [31]	7	46,Y,der(X),t(X;Y)(p22.3;q11)	NP	32	Azoospermia	Average stature	NP	Psychological disturbances.
	8	46,Y,der(X),t(X;Y)(p22.3;q11)	Maternal	40	Azoospermia	Average stature	NP	Psychological instability
Ballabio et al. [32]	9	46,Y,der(X)t(X;Y)(p22;q11)	Maternal	6	NP	105 cm (<3SD)	NP	Flat nasal bridge, chondrodysplasia punctata, ichthyosis, severe mental retardation, and epilepsy.
	10	46,Y,der(X)t(X;Y)(p22;q11)	Maternal	6	NP	113 cm, 25th centile	NP	Antimongoloid slant, strabismus and flat nasal bridge, ichthyosis, mild mental retardation, and chondrodysplasia punctata.
Ohdo et al. [33]	11	46,Y,der(X),t(X;Y)(p22.3;q11.1)	Maternal	Infant	NP	45.3 cm (<3SD)	NP	Peculiar face, congenital heart disease, dry and scaly skin, and growth and psychomotor retardation.
Ross [34]	12	46,Y,der(X),t(X;Y)(p22.3;q11)	Maternal	19	NP	<3SD	NP	Ichthyosis.
Metaxotou et al. [35]	13	46,Y, der(X),t(X;;)(p22;q11)	Maternal	14	NP	146	8/10	Hypogonadism, ichthyosis, and mental retardation.
Tiepolo et al. [36]	14	46,Y,t(X;Y)(Xqter→Xp22.2: :Yq11→Yqter)	Maternal	4 months	NP	NP	Cryptorchism	Flattened nasal bridge, convergent strabismus, bilateral simian creases, and small penis.

NP: not reported; SD: standard deviation.