X chromosome, monosomy Xq28

MedGen UID:: 419382
•Concept ID:: C2931312
•: Cell or Molecular Dysfunction

Synonyms:

Deletion Xq28; Monosomy Xq28

Recent clinical studies

Diagnosis

Microdeletion of Xq28 involving the AFF2 (FMR2) gene in two unrelated males with developmental delay.

Sahoo T, Theisen A, Marble M, Tervo R, Rosenfeld JA, Torchia BS, Shaffer LG
Am J Med Genet A 2011 Dec;155A(12):3110-5. Epub 2011 Nov 7 doi: 10.1002/ajmg.a.34345. PMID: 22065534

See all (1)

Prognosis

Microdeletion of Xq28 involving the AFF2 (FMR2) gene in two unrelated males with developmental delay.

Sahoo T, Theisen A, Marble M, Tervo R, Rosenfeld JA, Torchia BS, Shaffer LG
Am J Med Genet A 2011 Dec;155A(12):3110-5. Epub 2011 Nov 7 doi: 10.1002/ajmg.a.34345. PMID: 22065534

See all (1)

Clinical prediction guides

Microdeletion of Xq28 involving the AFF2 (FMR2) gene in two unrelated males with developmental delay.

Sahoo T, Theisen A, Marble M, Tervo R, Rosenfeld JA, Torchia BS, Shaffer LG
Am J Med Genet A 2011 Dec;155A(12):3110-5. Epub 2011 Nov 7 doi: 10.1002/ajmg.a.34345. PMID: 22065534

See all (1)

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X chromosome, monosomy Xq28

Recent clinical studies

Diagnosis

Prognosis

Clinical prediction guides

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