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A 9p13 to p24 duplication coupled with a whole 22q translocation onto 9p24

100%

Rivera H., Vasquez-Valasquez A. I., de Lourdes Ramirez-Duenas M., Becerra-Solano L. E.

Journal of Applied Genetics

2007

tom 48

nr 1

95-98

We report on a 3-year-old girl with a typical 9p trisomy syndrome, whose 45-chromosome karyotype includes a 9p+. As assessed by G, C and Ag-NOR bands, the rearranged chromosome resulted from a 9p13—>p24 direct duplication coupled with a translocation of the whole 22q onto 9pter, had heterochromatin at the junction site, lacked both nucleolar organizing regions (NORs) and centromere dots at the unconstricted fusion point, and was present in all metaphases scored. FISH results: a 9p subtelomere probe gave a diminished signal on the 9p+ precisely at the duplication junction 9p24::9pl3, but no labeling was observed at the 9;22 translocation site; a pancentromeric alphoid probe labeled all centromeres, and gave a distinct signal at the 9pter;22cen junction. Hence, her karyotype was 45,XX,rea(9;22)(9qter—>9p24::9pl3—>9p24::22p10—>22qter).ish rea(9;22)(9psubtel+ dim,pancen+). Parental chromosomes were normal. The distinctiveness of the present centromere-telomere fusion rests on the coupling of an intrachromosomal distal duplication with a whole-arm translocation including alphoid DNA onto the duplicated segment. The centromeric inertia of the residual alphoid DNA in the present case compares with the variable functional status of the chromosome 22 centromere in true heterodicentrics involving such a chromosome.

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

76%

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

Journal of Applied Genetics

2005

tom 46

nr 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 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.

Familial whole-arm translocations [1:19], [9:13], and [12:21]: a review of 101 constitutional exchanges

76%

Vazquez-Capacho A., Vasquez-Velasquez A. I., Barros-Nunez P., Mantilla-Capacho J., Rocchi M., Rivera H.

Journal of Applied Genetics

2007

tom 48

nr 3

261-268

We report here on 3 familial whole-arm translocations (WATs), namely the 8th instance of t(l;19)(p10;q10) and 2 novel exchanges: t(9;13)(p10;q10) and t(12;21)(p10;q10). The exchanges (1;19) and (12;21) were ascertained through a balanced carrier, whereas the t(9;13) was first diagnosed in a boy with atrisomy 9p syndrome and der(9p13p). Results of FISH analyses with the appropriate a-satellite probes were as follows. Family 1, t(l;19): the D1Z5 probe gave a strong signal on both the normal chromosome 1 and the der(1q19p) as well as a weak signal on the der(1p19q). Family 2, t(9;13): the centromere-9 alphoid and D13Z1 /D21Z1 probes under standard stringency gave no signal on the der(9p 13p) in both the proband and a carrier brother, whereas the der(9ql3q) was labelled only with the centromere-9 alphoid repeat in the latter; yet, this probe under low stringency revealed a residual amount of alphoid DNA on the der(9p 13p) in the carrier. Family 3, t(12;21): the D12Z3 probe gave a signal on the normal chromosome 12 and the der(12p21q), whereas the D13Z1/D21Z1 repeat labelled the der(12q21p), the normal chromosome 21, and both chromosomes 13. Out of 101 WATs compiled here, 73 are distinct exchanges, including 32 instances between chromosomes with common alphoid repeats. Moreover, 7/9 of recurrent WATs involved chromosomes from the same alphoid family. Thus constitutional WATs appear to recur more frequently than other reciprocal exchanges, often involve chromosomes with common alphoid repeats, and can mostly be accounted for the great homology in alphoid DNA that favours mispairing and illegitimate nonhomologous recombination.

Ograniczanie wyników

3 Journal of Applied Genetics

3 Rivera H.

2 Vasquez-Velasquez A. I.

1 Arnaud-Lopez L.

1 Barros-Nunez P.

1 Becerra-Solano L. E.

1 Figuera L. E.

1 Mantilla-Capacho J.

1 Padilla-Gutierrez J. R.

1 Rivas F.

1 Rocchi M.

1 Vasquez-Valasquez A. I.

1 Vazquez-Capacho A.

1 de Lourdes Ramirez-Duenas M.

2 2007

1 2005

Wyniki wyszukiwania

A 9p13 to p24 duplication coupled with a whole 22q translocation onto 9p24

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

Familial whole-arm translocations [1:19], [9:13], and [12:21]: a review of 101 constitutional exchanges