Ambiguous genitalia by 9p deletion inherent to a dic [Y:9][q12:p24]

• Autorzy: Vasquez-Velasquez A I , Arnaud-Lopez L. , Figuera L.E. , Padilla-Gutierrez J.R. , Rivas F. , Rivera H.
• Języki publikacji: EN

Abstrakty

EN

We describe here a 3-month-old male infant with brachy-plagyocephaly, short neck, widely spaced nipples, mild hypertonia, and ambiguous external genitalia but with both testes in the scrotum and no Miillerian derivates. His karyotype was 45,X,der(Y;9)(q12;p24).ish der(Y;9)(DYZ3+,SRY+,9ptel-) de novo. This patient's impaired sex differentiation is consistent with gonadal dysgenesis and compares with the male-to-female sex reversal secondary to a partial 9p deletion in spite of an intact Yp or SRY locus documented in 24 patients including a sex-reversed girl with a (Y;9) dicentric derivative. As for the cytogenetic findings, this case represents the second instance of a de novo pseudodicentric (Y;9) chromosome with loss of both distal 9p and Yq12 regions, apparent intactness of SRY, and consistent or preferential inactivation of the Y centromere. In addition, the possible 9p23p-p22 duplication observed in this case evokes the concomitant 9p22-p21 duplication documented in the previous girl with a (Y;9) derivative. Hence, these striking similarities point to a nonrandom Y;9 rearrangement in patients with either sex reversal or gonadal dysgenesis. Even if the present pseudodicentric derivative had inactivated the Y centromere, the existence of some variant cells points to functional dicentricity as it has been documented in other Y;autosome dicentric derivatives.

• Wydawca: -
• Czasopismo: Journal of Applied Genetics
• Rocznik: 2005
• Tom: 46
• Numer: 4
• Opis fizyczny: p.415-418,fig.,ref.

Twórcy

autor

Vasquez-Velasquez A I

• Instituto Mexicano del Seguro Social, Ap. Postal 1-3838, Guadalajara, Jal., Mexico

autor

Arnaud-Lopez L.

autor

Figuera L.E.

autor

Padilla-Gutierrez J.R.

autor

Rivas F.

autor

Rivera H.

Bibliografia

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