Mosaic proximal trisomy 13q and regular trisomy 13 in a female patient with long survival: Involvement of an incomplete trisomic rescue and a chromothripsis event
Abstract Background Trisomy 13 or Patau syndrome has a prevalence of 1:10,000–20,000 and is characterized by microcephaly, microphthalmia, polydactyly, as well as other dysmorphic features and malformations, with a patient survival of 13% in the first year. Trisomy 13 presents either as a free chrom...
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| Format: | Article |
| Language: | English |
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Wiley
2021-09-01
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| Series: | Molecular Genetics & Genomic Medicine |
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| Online Access: | https://doi.org/10.1002/mgg3.1762 |
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| author | Verónica Fabiola Morán‐Barroso Alicia Cervantes María del Refugio Rivera‐Vega Adriana del Castillo‐Moreno Alejandra Moreno‐Chacón Estefanía Mejía‐Cauich Laura Eréndira Contreras‐Ortiz Fernando Fernández‐Ramírez |
| author_facet | Verónica Fabiola Morán‐Barroso Alicia Cervantes María del Refugio Rivera‐Vega Adriana del Castillo‐Moreno Alejandra Moreno‐Chacón Estefanía Mejía‐Cauich Laura Eréndira Contreras‐Ortiz Fernando Fernández‐Ramírez |
| author_sort | Verónica Fabiola Morán‐Barroso |
| collection | DOAJ |
| description | Abstract Background Trisomy 13 or Patau syndrome has a prevalence of 1:10,000–20,000 and is characterized by microcephaly, microphthalmia, polydactyly, as well as other dysmorphic features and malformations, with a patient survival of 13% in the first year. Trisomy 13 presents either as a free chromosome 13 trisomy or associated with a chromosomal Robertsonian translocation, as partial trisomy affecting proximal or distal 13q regions, and also as a mosaic. Mosaic trisomy 13 shows a highly variable phenotype, displaying from mild to severe affectations. We present a 12‐year‐old Mexican female patient with intellectual disability, dysmorphic features, polymenorrhea, and long survival, whose initial cytogenetic study referred to a small supernumerary marker chromosome. Methods GTG banding karyotype, high‐resolution chromosomal microarray, and fluorescent in situ hybridization analyses were performed in peripheral blood cells. Results Our analyses demonstrated a de novo mosaicism in our patient, constituted by proximal trisomy 13q10‐q14.3 (82%) and free trisomy 13 (18%) cell lines. Her final chromosomal complement is mos 47,XX,+del(13)(q14.3)[25]/47,XX,+13[7].ish del(13)(RB1+)[17]/13q14(RB1x3)[2].arr[GRCh37] 13q11q14.3(19436286_51726415)x3,13q11q34(19436286_115107733)x2‐3 dn. Conclusions The wide spectrum of clinical manifestations observed in our patient mainly results from the proximal trisomy 13q, and her phenotype is modified by the presence of a free trisomy 13 cell line. We propose that her mosaicism probably derived from a trisomic zygote that underwent a failed trisomic rescue associated with chromothripsis, originating the cell line with partial 13q proximal trisomy, whose selective advantage could explain the long survival of our patient. |
| first_indexed | 2024-12-18T01:06:41Z |
| format | Article |
| id | doaj.art-7fb0fbec534a46f6a92679c82a5aa3e2 |
| institution | Directory Open Access Journal |
| issn | 2324-9269 |
| language | English |
| last_indexed | 2024-12-18T01:06:41Z |
| publishDate | 2021-09-01 |
| publisher | Wiley |
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| series | Molecular Genetics & Genomic Medicine |
| spelling | doaj.art-7fb0fbec534a46f6a92679c82a5aa3e22022-12-21T21:26:13ZengWileyMolecular Genetics & Genomic Medicine2324-92692021-09-0199n/an/a10.1002/mgg3.1762Mosaic proximal trisomy 13q and regular trisomy 13 in a female patient with long survival: Involvement of an incomplete trisomic rescue and a chromothripsis eventVerónica Fabiola Morán‐Barroso0Alicia Cervantes1María del Refugio Rivera‐Vega2Adriana del Castillo‐Moreno3Alejandra Moreno‐Chacón4Estefanía Mejía‐Cauich5Laura Eréndira Contreras‐Ortiz6Fernando Fernández‐Ramírez7Servicio de Genética Hospital General de México Dr. Eduardo Liceaga Ciudad de México MéxicoServicio de Genética Hospital General de México Dr. Eduardo Liceaga Ciudad de México MéxicoServicio de Genética Hospital General de México Dr. Eduardo Liceaga Ciudad de México MéxicoServicio de Genética Hospital General de México Dr. Eduardo Liceaga Ciudad de México MéxicoServicio de Genética Hospital General de México Dr. Eduardo Liceaga Ciudad de México MéxicoFacultad de Química Universidad Nacional Autónoma de México Ciudad de México MéxicoServicio de Genética Hospital General de México Dr. Eduardo Liceaga Ciudad de México MéxicoServicio de Genética Hospital General de México Dr. Eduardo Liceaga Ciudad de México MéxicoAbstract Background Trisomy 13 or Patau syndrome has a prevalence of 1:10,000–20,000 and is characterized by microcephaly, microphthalmia, polydactyly, as well as other dysmorphic features and malformations, with a patient survival of 13% in the first year. Trisomy 13 presents either as a free chromosome 13 trisomy or associated with a chromosomal Robertsonian translocation, as partial trisomy affecting proximal or distal 13q regions, and also as a mosaic. Mosaic trisomy 13 shows a highly variable phenotype, displaying from mild to severe affectations. We present a 12‐year‐old Mexican female patient with intellectual disability, dysmorphic features, polymenorrhea, and long survival, whose initial cytogenetic study referred to a small supernumerary marker chromosome. Methods GTG banding karyotype, high‐resolution chromosomal microarray, and fluorescent in situ hybridization analyses were performed in peripheral blood cells. Results Our analyses demonstrated a de novo mosaicism in our patient, constituted by proximal trisomy 13q10‐q14.3 (82%) and free trisomy 13 (18%) cell lines. Her final chromosomal complement is mos 47,XX,+del(13)(q14.3)[25]/47,XX,+13[7].ish del(13)(RB1+)[17]/13q14(RB1x3)[2].arr[GRCh37] 13q11q14.3(19436286_51726415)x3,13q11q34(19436286_115107733)x2‐3 dn. Conclusions The wide spectrum of clinical manifestations observed in our patient mainly results from the proximal trisomy 13q, and her phenotype is modified by the presence of a free trisomy 13 cell line. We propose that her mosaicism probably derived from a trisomic zygote that underwent a failed trisomic rescue associated with chromothripsis, originating the cell line with partial 13q proximal trisomy, whose selective advantage could explain the long survival of our patient.https://doi.org/10.1002/mgg3.1762chromothripsishyperpolymenorrheamosaic trisomy 13proximal trisomy 13qtrisomic rescue |
| spellingShingle | Verónica Fabiola Morán‐Barroso Alicia Cervantes María del Refugio Rivera‐Vega Adriana del Castillo‐Moreno Alejandra Moreno‐Chacón Estefanía Mejía‐Cauich Laura Eréndira Contreras‐Ortiz Fernando Fernández‐Ramírez Mosaic proximal trisomy 13q and regular trisomy 13 in a female patient with long survival: Involvement of an incomplete trisomic rescue and a chromothripsis event Molecular Genetics & Genomic Medicine chromothripsis hyperpolymenorrhea mosaic trisomy 13 proximal trisomy 13q trisomic rescue |
| title | Mosaic proximal trisomy 13q and regular trisomy 13 in a female patient with long survival: Involvement of an incomplete trisomic rescue and a chromothripsis event |
| title_full | Mosaic proximal trisomy 13q and regular trisomy 13 in a female patient with long survival: Involvement of an incomplete trisomic rescue and a chromothripsis event |
| title_fullStr | Mosaic proximal trisomy 13q and regular trisomy 13 in a female patient with long survival: Involvement of an incomplete trisomic rescue and a chromothripsis event |
| title_full_unstemmed | Mosaic proximal trisomy 13q and regular trisomy 13 in a female patient with long survival: Involvement of an incomplete trisomic rescue and a chromothripsis event |
| title_short | Mosaic proximal trisomy 13q and regular trisomy 13 in a female patient with long survival: Involvement of an incomplete trisomic rescue and a chromothripsis event |
| title_sort | mosaic proximal trisomy 13q and regular trisomy 13 in a female patient with long survival involvement of an incomplete trisomic rescue and a chromothripsis event |
| topic | chromothripsis hyperpolymenorrhea mosaic trisomy 13 proximal trisomy 13q trisomic rescue |
| url | https://doi.org/10.1002/mgg3.1762 |
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