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2005 | 46 | 4 | 415-418
Article title

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

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EN
Abstracts
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 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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Publisher

Year
Volume
46
Issue
4
Pages
415-418
Physical description
Contributors
References
Document Type
SHORT REPORT
Publication order reference
H. Rivera, Centro de Investigaci?n Biomedica de Occidente, Instituto Mexicano del Seguro Social, Ap. Postal 1?3838, Guadalajara, Jal., Mexico
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YADDA identifier
bwmeta1.element.element-from-psjc-1b46163f-5f60-3d42-bbd7-6cd06739a4cc
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