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

From: Factor VII deficiency and developmental abnormalities in a patient with partial monosomy of 13q and trisomy of 16p: case report and review of the literature

Chromosomal Abnormality Clinical Features Reference
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]
  1. Abbreviations: IUGR = intrauterine growth retardation; MR = mental retardation; PF = palpebral fissures; SS = short stature.