Two girls with a de novo Xq rearrangement of paternal origin: t(X;9)(q24;q12) or rea(X)dup q
Objective: We report on two rare Xq rearrangements, namely a t(X;9)(q24;q12) found in a mildly-affected girl (Patient 1) and a rea(X)dup q concomitant with a rob(14;21)mat in a Down syndrome girl (Patient 2). Case report: Both rearrangements were characterized by banding techniques [Giemsa (G), cons...
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| Format: | Article |
| Language: | English |
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Elsevier
2016-04-01
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| Series: | Taiwanese Journal of Obstetrics & Gynecology |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1028455916000413 |
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| author | Ana I. Vásquez-Velásquez Horacio Rivera Ana G. Castro Ana R. Jaloma-Cruz Clara I. Juárez Irving J. Lara-Navarro Carlos Córdova-Fletes Paul Mendoza- Pérez José E. García-Ortiz |
| author_facet | Ana I. Vásquez-Velásquez Horacio Rivera Ana G. Castro Ana R. Jaloma-Cruz Clara I. Juárez Irving J. Lara-Navarro Carlos Córdova-Fletes Paul Mendoza- Pérez José E. García-Ortiz |
| author_sort | Ana I. Vásquez-Velásquez |
| collection | DOAJ |
| description | Objective: We report on two rare Xq rearrangements, namely a t(X;9)(q24;q12) found in a mildly-affected girl (Patient 1) and a rea(X)dup q concomitant with a rob(14;21)mat in a Down syndrome girl (Patient 2). Case report: Both rearrangements were characterized by banding techniques [Giemsa (G), constitutive heterochromatin (C), and bromodeoxyuridine (BrdU) pulse], fluorescence in situ hybridization (FISH) assays, human androgen receptor (HUMAR) assays, and microarray analyses. Patient 1 had a t(X;9)(q24;q12)dn. Patient 2 had a de novo rea(X)(qter→q23 or q24::p11.2→qter) concomitant with an unbalanced rob(14;21)mat. X-Inactivation studies in metaphases and DNA revealed a fully skewed inactivation: the normal homolog was silenced in Patient 1 and the rea(X) in Patient 2. Both rearranged X chromosomes were of paternal descent. Microarray analyses revealed no imbalances in Patient 1 whereas loss of Xp (∼52 Mb) and duplication of Xq (∼44 Mb) and 21q were confirmed in Patient 2. Conclusion: Our observations further document the cytogenetic heterogeneity and predominant paternal origin of certain de novo X-chromosome rearrangements. |
| first_indexed | 2024-12-23T21:09:06Z |
| format | Article |
| id | doaj.art-967b553492e14324904ad69f7588388e |
| institution | Directory Open Access Journal |
| issn | 1028-4559 |
| language | English |
| last_indexed | 2024-12-23T21:09:06Z |
| publishDate | 2016-04-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Taiwanese Journal of Obstetrics & Gynecology |
| spelling | doaj.art-967b553492e14324904ad69f7588388e2022-12-21T17:31:07ZengElsevierTaiwanese Journal of Obstetrics & Gynecology1028-45592016-04-0155227528010.1016/j.tjog.2015.09.004Two girls with a de novo Xq rearrangement of paternal origin: t(X;9)(q24;q12) or rea(X)dup qAna I. Vásquez-Velásquez0Horacio Rivera1Ana G. Castro2Ana R. Jaloma-Cruz3Clara I. Juárez4Irving J. Lara-Navarro5Carlos Córdova-Fletes6Paul Mendoza- Pérez7José E. García-Ortiz8División de Genética, Centro de Investigación Biomédica de Occidente, Centro Médico Nacional de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, MexicoDivisión de Genética, Centro de Investigación Biomédica de Occidente, Centro Médico Nacional de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, MexicoDivisión de Medicina Molecular, Centro de Investigación Biomédica de Occidente, Centro Médico Nacional de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, MexicoDivisión de Genética, Centro de Investigación Biomédica de Occidente, Centro Médico Nacional de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, MexicoDivisión de Medicina Molecular, Centro de Investigación Biomédica de Occidente, Centro Médico Nacional de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, MexicoFacultad de Biología, Centro Universitario de Ciencias Biológicas y Agropecuarias, Universidad de Guadalajara, Guadalajara, MexicoLaboratorio de Citogenómica y Microarreglos, Departamento de Bioquímica y Medicina Molecular, Facultad de Medicina, Universidad Autónoma de Nuevo León, Monterrey, MexicoLaboratorio de Citogenómica y Microarreglos, Departamento de Bioquímica y Medicina Molecular, Facultad de Medicina, Universidad Autónoma de Nuevo León, Monterrey, MexicoDivisión de Genética, Centro de Investigación Biomédica de Occidente, Centro Médico Nacional de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, MexicoObjective: We report on two rare Xq rearrangements, namely a t(X;9)(q24;q12) found in a mildly-affected girl (Patient 1) and a rea(X)dup q concomitant with a rob(14;21)mat in a Down syndrome girl (Patient 2). Case report: Both rearrangements were characterized by banding techniques [Giemsa (G), constitutive heterochromatin (C), and bromodeoxyuridine (BrdU) pulse], fluorescence in situ hybridization (FISH) assays, human androgen receptor (HUMAR) assays, and microarray analyses. Patient 1 had a t(X;9)(q24;q12)dn. Patient 2 had a de novo rea(X)(qter→q23 or q24::p11.2→qter) concomitant with an unbalanced rob(14;21)mat. X-Inactivation studies in metaphases and DNA revealed a fully skewed inactivation: the normal homolog was silenced in Patient 1 and the rea(X) in Patient 2. Both rearranged X chromosomes were of paternal descent. Microarray analyses revealed no imbalances in Patient 1 whereas loss of Xp (∼52 Mb) and duplication of Xq (∼44 Mb) and 21q were confirmed in Patient 2. Conclusion: Our observations further document the cytogenetic heterogeneity and predominant paternal origin of certain de novo X-chromosome rearrangements.http://www.sciencedirect.com/science/article/pii/S1028455916000413de novopaternal descentX-autosome translocationrecombinant chromosomeXq duplication |
| spellingShingle | Ana I. Vásquez-Velásquez Horacio Rivera Ana G. Castro Ana R. Jaloma-Cruz Clara I. Juárez Irving J. Lara-Navarro Carlos Córdova-Fletes Paul Mendoza- Pérez José E. García-Ortiz Two girls with a de novo Xq rearrangement of paternal origin: t(X;9)(q24;q12) or rea(X)dup q Taiwanese Journal of Obstetrics & Gynecology de novo paternal descent X-autosome translocation recombinant chromosome Xq duplication |
| title | Two girls with a de novo Xq rearrangement of paternal origin: t(X;9)(q24;q12) or rea(X)dup q |
| title_full | Two girls with a de novo Xq rearrangement of paternal origin: t(X;9)(q24;q12) or rea(X)dup q |
| title_fullStr | Two girls with a de novo Xq rearrangement of paternal origin: t(X;9)(q24;q12) or rea(X)dup q |
| title_full_unstemmed | Two girls with a de novo Xq rearrangement of paternal origin: t(X;9)(q24;q12) or rea(X)dup q |
| title_short | Two girls with a de novo Xq rearrangement of paternal origin: t(X;9)(q24;q12) or rea(X)dup q |
| title_sort | two girls with a de novo xq rearrangement of paternal origin t x 9 q24 q12 or rea x dup q |
| topic | de novo paternal descent X-autosome translocation recombinant chromosome Xq duplication |
| url | http://www.sciencedirect.com/science/article/pii/S1028455916000413 |
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