Del(X)(q?)

 

Epidemiology and Etiology:

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Common sites:

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Gross features:

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Histologic features:

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Immunophenotype:

Marker:

Sensitivity:

Specificity:

 

 

 

 

Molecular features:

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Other features:

    • Oligomenorrhea (majority)
    • Infertility / Premature ovarian failure
      • Critical regions:
        • Xq13-q25
        • Xq26-q27
      • See p. 203 in Gardner for more detailed info
    • Short stature (43%)
    • NOT neurocognitive defects

 

References:

    • Partnoi MF, Aboura A, Tachdjian G, et al.  Molecular cytogenetic studies of Xq critical regions in premature ovarian failure patients.  Hum Reprod.  2006;21(9):2329-34.
    • Marozzi A, Manfredini E, Tibiletti MG, et al.  Molecular definition of Xq common-deleted region in patients affected by premature ovarian failure.  Hum Genet. 2000;107(4):304-11.
    • Geerkens C, Just W, Vogel W.  Deletions of Xq and growth deficit: a review.  Am J Med Genet.  1994;50(2):105-13.
    • Ross J, Roeltgen D, Zinn A.  Cognition and the sex chromosomes: studies in Turner syndrome.  Horm Res.  2006;65(1):47-56.
    • Gardner RJM, Sutherland GR.  Crhomosome Abnormalities and Genetic Counseling.  2nd ed.  Oxford University Press, USA; 1996.