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Ambiguous genitalia by 9p deletion inherent to a dic(Y;9)(q12;p24)

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Vasquez-Velasquez A. I., Arnaud-Lopez L., Figuera L. E., Padilla-Gutierrez J. R., Rivas F., Rivera H.

Journal of Applied Genetics

2005

vol. 46

issue 4

415-418

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 Mullerian 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.

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1 Journal of Applied Genetics

1 2005

1 Arnaud-Lopez L.

1 Figuera L. E.

1 Padilla-Gutierrez J. R.

1 Rivas F.

1 Rivera H.

1 Vasquez-Velasquez A. I.

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Ambiguous genitalia by 9p deletion inherent to a dic(Y;9)(q12;p24)