A PARTIAL TRISOMY 9 CASE WITH DICENTRIC CHROMOSOME DUE TO THE ADJACENT-2 SEGREGATION OF MATERNAL RECIPROCAL TRANSLOCATION
Duplication of the short arm (p) of chromosome (Chr.) 9 is a frequently seen abnormality while duplication of both p and long arm (q) is a rare chromosomal rearrangement derived mostly from parental translocations or inversions. The unbalanced products of the translocations are mostly derived from t...
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Istanbul University Press
2022-03-01
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| Series: | İstanbul Tıp Fakültesi Dergisi |
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| Online Access: | https://cdn.istanbul.edu.tr/file/JTA6CLJ8T5/CC9E1BAE296840E5845FFF45E0D7A773 |
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| author | Ezgi Urtekin Gülsüm Kayhan Elvin Kazancıoğlu Meral Yirmibeş Karaoğuz |
| author_facet | Ezgi Urtekin Gülsüm Kayhan Elvin Kazancıoğlu Meral Yirmibeş Karaoğuz |
| author_sort | Ezgi Urtekin |
| collection | DOAJ |
| description | Duplication of the short arm (p) of chromosome (Chr.) 9 is a frequently seen abnormality while duplication of both p and long arm (q) is a rare chromosomal rearrangement derived mostly from parental translocations or inversions. The unbalanced products of the translocations are mostly derived from the 2:2 segregation of adjacent 1division while the ones due the adjacent two patterns are rare. Here, a dysmorphic infant with a pure duplication of 9pter to 9q22.31 is reported due to the product of the adjacent-2 segregation of maternal reciprocal translocation between the 9q22.31 and 22p11.1. The affected infant had two normal and one derivative/dicentric Chr.9 (carrying the centromere regions of both Chr.9 and Chr.22) with one normal Chr.22. These results were confirmed by the fluorescence in situ hybridization technique. Array-comparative genomic hybridization confirmed the breakpoints precisely and revealed a 61.75 megabases duplication of Chr.9 consisting of many genes such as BICD2, NTRK2, HNRNPK, and SMARCA2, which are mostly related to developmental delay and growth retardation. Additionally, the infant had ear abnormalities, microcephaly, and extremity abnormalities, which were the other findings of trisomy 9. In sum, the case has presented as a rare example of adjacent 2 division of 2:2 segregation and a pure partial trisomy of 9pter to 9q22.31. |
| format | Article |
| id | doaj-art-d81f14d75172458292ce11f56b41eea8 |
| institution | Kabale University |
| issn | 1305-6441 |
| language | English |
| publishDate | 2022-03-01 |
| publisher | Istanbul University Press |
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| series | İstanbul Tıp Fakültesi Dergisi |
| spelling | doaj-art-d81f14d75172458292ce11f56b41eea82025-08-20T03:52:47ZengIstanbul University Pressİstanbul Tıp Fakültesi Dergisi1305-64412022-03-0185227928410.26650/IUITFD.1038997123456A PARTIAL TRISOMY 9 CASE WITH DICENTRIC CHROMOSOME DUE TO THE ADJACENT-2 SEGREGATION OF MATERNAL RECIPROCAL TRANSLOCATIONEzgi Urtekin0https://orcid.org/0000-0001-9951-2812Gülsüm Kayhan1https://orcid.org/0000-0002-4286-243XElvin Kazancıoğlu2https://orcid.org/0000-0002-7603-6558Meral Yirmibeş Karaoğuz3https://orcid.org/0000-0002-0178-8018Gazi Üniversitesi, Ankara, TurkiyeGazi Üniversitesi, Ankara, TurkiyeGazi Üniversitesi, Ankara, TurkiyeGazi Üniversitesi, Ankara, TurkiyeDuplication of the short arm (p) of chromosome (Chr.) 9 is a frequently seen abnormality while duplication of both p and long arm (q) is a rare chromosomal rearrangement derived mostly from parental translocations or inversions. The unbalanced products of the translocations are mostly derived from the 2:2 segregation of adjacent 1division while the ones due the adjacent two patterns are rare. Here, a dysmorphic infant with a pure duplication of 9pter to 9q22.31 is reported due to the product of the adjacent-2 segregation of maternal reciprocal translocation between the 9q22.31 and 22p11.1. The affected infant had two normal and one derivative/dicentric Chr.9 (carrying the centromere regions of both Chr.9 and Chr.22) with one normal Chr.22. These results were confirmed by the fluorescence in situ hybridization technique. Array-comparative genomic hybridization confirmed the breakpoints precisely and revealed a 61.75 megabases duplication of Chr.9 consisting of many genes such as BICD2, NTRK2, HNRNPK, and SMARCA2, which are mostly related to developmental delay and growth retardation. Additionally, the infant had ear abnormalities, microcephaly, and extremity abnormalities, which were the other findings of trisomy 9. In sum, the case has presented as a rare example of adjacent 2 division of 2:2 segregation and a pure partial trisomy of 9pter to 9q22.31.https://cdn.istanbul.edu.tr/file/JTA6CLJ8T5/CC9E1BAE296840E5845FFF45E0D7A773partial trisomy 9reciprocal translocationadjacent-2 segregationdicentric chromosomechromosomal rearrangementgrowth retardationfluorescence in situ hybridizationarray-comparative genomic hybridizatio |
| spellingShingle | Ezgi Urtekin Gülsüm Kayhan Elvin Kazancıoğlu Meral Yirmibeş Karaoğuz A PARTIAL TRISOMY 9 CASE WITH DICENTRIC CHROMOSOME DUE TO THE ADJACENT-2 SEGREGATION OF MATERNAL RECIPROCAL TRANSLOCATION İstanbul Tıp Fakültesi Dergisi partial trisomy 9 reciprocal translocation adjacent-2 segregation dicentric chromosome chromosomal rearrangement growth retardation fluorescence in situ hybridization array-comparative genomic hybridizatio |
| title | A PARTIAL TRISOMY 9 CASE WITH DICENTRIC CHROMOSOME DUE TO THE ADJACENT-2 SEGREGATION OF MATERNAL RECIPROCAL TRANSLOCATION |
| title_full | A PARTIAL TRISOMY 9 CASE WITH DICENTRIC CHROMOSOME DUE TO THE ADJACENT-2 SEGREGATION OF MATERNAL RECIPROCAL TRANSLOCATION |
| title_fullStr | A PARTIAL TRISOMY 9 CASE WITH DICENTRIC CHROMOSOME DUE TO THE ADJACENT-2 SEGREGATION OF MATERNAL RECIPROCAL TRANSLOCATION |
| title_full_unstemmed | A PARTIAL TRISOMY 9 CASE WITH DICENTRIC CHROMOSOME DUE TO THE ADJACENT-2 SEGREGATION OF MATERNAL RECIPROCAL TRANSLOCATION |
| title_short | A PARTIAL TRISOMY 9 CASE WITH DICENTRIC CHROMOSOME DUE TO THE ADJACENT-2 SEGREGATION OF MATERNAL RECIPROCAL TRANSLOCATION |
| title_sort | partial trisomy 9 case with dicentric chromosome due to the adjacent 2 segregation of maternal reciprocal translocation |
| topic | partial trisomy 9 reciprocal translocation adjacent-2 segregation dicentric chromosome chromosomal rearrangement growth retardation fluorescence in situ hybridization array-comparative genomic hybridizatio |
| url | https://cdn.istanbul.edu.tr/file/JTA6CLJ8T5/CC9E1BAE296840E5845FFF45E0D7A773 |
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