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

• Authors: A.I. Vasquez-Velasquez , L. Arnaud-Lopez , L.E. Figuera , J.R. Padilla-Gutierrez , F. Rivas , H. Rivera
• Languages of publication: 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.

Keywords

EN

9P CHROMOSOME; DELETION; SEX REVERSAL

Discipline

• GENETICS: GENETICS

• Publisher: Institute of Plant Genetics, Polish Academy of Sciences
• Journal: Journal of Applied Genetics
• Year: 2005
• Volume: 46
• Issue: 4
• Pages: 415-418

Contributors

author

A.I. Vasquez-Velasquez

author

L. Arnaud-Lopez

author

L.E. Figuera

author

J.R. Padilla-Gutierrez

author

F. Rivas

author

H. Rivera

• 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