Table 1 Summary of cases with relatively isolated monosomy 13q33-qter.

46, XY, del(13)(q33.3)

IUGR; microcephaly; SS; hypotonia; large, low-set ears; hypertelorism; small chin; high/ broad forehead; SPC; mild psychomotor delay

[5]

46, XY, del(13)(q33.2)

IUGR; microcephaly; SS; psychomotor delay; reduced factors VII and X; MR; SS; high nasal bridge; large ears; stiff thumbs; language delay

[35]

46, XY, del(13)(q33.2)

IUGR; microcephaly; SS; speech delay; tapering fingers; transverse palmar crease; high nasal bridge; mild anal prolapse; reduced factors VII and X

[35]

46, XY, del (13)(q33)

Growth and psychomotor retardation; microcephaly; brachycephaly; facial asymmetry; ear anomalies; hypospadias

[36]

46, XX, del(13)(q33)

Psychomotor retardation; hypertelorism; upslanting PF; ear anomalies

[37]

46, XY, del(13)(q33.2)

Lumbosacral myelomeningocele; bilateral cryptorchidism; ambiguous genitalia; microcephaly; telecanthus; short PF; large ears; broad nasal bridge; short philtrum; enamel defects; short neck;

[3]

46, XX, del(13)(q33)

IUGR; growth and psychomotor retardation; microcephaly; hypertelorism; high nasal bridge; ear anomalies

[38]

46, XY, del(13)(q32.3q33.2)

Hirschspring disease; psychomotor retardation; ear anomalies

[39]