Searching chromosome mosaicisms in 45,X Turner syndrome: how relevant is it?
ABSTRACT Objective: To investigate the presence of chromosome mosaicism, especially for the presence of Y derived material in 45,X women with Turner syndrome (TS). Materials and methods: FISH and PCR were performed for the presence of chromosome mosaicism and Y-derived-material and genetic finding...
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| Format: | Article |
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Brazilian Society of Endocrinology and Metabolism
2021-11-01
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| Series: | Archives of Endocrinology and Metabolism |
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| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972021000600739&tlng=en |
| _version_ | 1818955537023238144 |
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| author | Jéssica Silva Soares Renata Maria Rabello da Silva Lago Maria Betânia Pereira Toralles Laís Ribeiro Mota Esmeralda Santos Alves Acácia Fernandes Lacerda de Carvalho |
| author_facet | Jéssica Silva Soares Renata Maria Rabello da Silva Lago Maria Betânia Pereira Toralles Laís Ribeiro Mota Esmeralda Santos Alves Acácia Fernandes Lacerda de Carvalho |
| author_sort | Jéssica Silva Soares |
| collection | DOAJ |
| description | ABSTRACT Objective: To investigate the presence of chromosome mosaicism, especially for the presence of Y derived material in 45,X women with Turner syndrome (TS). Materials and methods: FISH and PCR were performed for the presence of chromosome mosaicism and Y-derived-material and genetic findings were correlated to clinical data. Results: Thirty-one participants were enrolled: 18 (58%) had chromosome mosaicisms (FISH), Y-derived material was found in 2. Yet, SRY primer was found with PCR in only one of them and DYZ3 was not found. The most frequent clinical findings were short or webbed neck (81,82%), high-arched palate (78%), breast hypertelorism, e cubitus valgus and genu valgus (57.6%, both), short fourth metacarpals (46.9%), epicanthic folds (43.8%), shield chest (43.8%), lymphedema (37.5%), and low set ears (34.4%). Both patients with Y-derived-material had primary amenorrhea, dyslipidemia and reached the height of 150 cm despite not treated with recombinant growth hormone (GHr). One of them showed 26% of leukocytes with Y-derived material and few clinical findings. Conclusions: FISH techniques proved efficient in detecting chromosome mosaicisms and Y-derived material and searching in different tissues such as mouth cells is critical due to the possibility of tissue-specific mosaicism. Phenotypical variance in TS may be a signal of chromosome mosaicisms, especially with the presence of Y-derived material. |
| first_indexed | 2024-12-20T10:39:38Z |
| format | Article |
| id | doaj.art-d9ef12af76e8411c8b8b068f12746555 |
| institution | Directory Open Access Journal |
| issn | 2359-4292 |
| language | English |
| last_indexed | 2024-12-20T10:39:38Z |
| publishDate | 2021-11-01 |
| publisher | Brazilian Society of Endocrinology and Metabolism |
| record_format | Article |
| series | Archives of Endocrinology and Metabolism |
| spelling | doaj.art-d9ef12af76e8411c8b8b068f127465552022-12-21T19:43:34ZengBrazilian Society of Endocrinology and MetabolismArchives of Endocrinology and Metabolism2359-42922021-11-0165673974610.20945/2359-3997000000403Searching chromosome mosaicisms in 45,X Turner syndrome: how relevant is it?Jéssica Silva Soareshttps://orcid.org/0000-0002-9975-4878Renata Maria Rabello da Silva Lagohttps://orcid.org/0000-0002-6743-8934Maria Betânia Pereira Toralleshttps://orcid.org/0000-0001-7970-7102Laís Ribeiro Motahttps://orcid.org/0000-0002-7804-8608Esmeralda Santos Alveshttps://orcid.org/0000-0002-9912-8404Acácia Fernandes Lacerda de Carvalhohttps://orcid.org/0000-0003-3639-338XABSTRACT Objective: To investigate the presence of chromosome mosaicism, especially for the presence of Y derived material in 45,X women with Turner syndrome (TS). Materials and methods: FISH and PCR were performed for the presence of chromosome mosaicism and Y-derived-material and genetic findings were correlated to clinical data. Results: Thirty-one participants were enrolled: 18 (58%) had chromosome mosaicisms (FISH), Y-derived material was found in 2. Yet, SRY primer was found with PCR in only one of them and DYZ3 was not found. The most frequent clinical findings were short or webbed neck (81,82%), high-arched palate (78%), breast hypertelorism, e cubitus valgus and genu valgus (57.6%, both), short fourth metacarpals (46.9%), epicanthic folds (43.8%), shield chest (43.8%), lymphedema (37.5%), and low set ears (34.4%). Both patients with Y-derived-material had primary amenorrhea, dyslipidemia and reached the height of 150 cm despite not treated with recombinant growth hormone (GHr). One of them showed 26% of leukocytes with Y-derived material and few clinical findings. Conclusions: FISH techniques proved efficient in detecting chromosome mosaicisms and Y-derived material and searching in different tissues such as mouth cells is critical due to the possibility of tissue-specific mosaicism. Phenotypical variance in TS may be a signal of chromosome mosaicisms, especially with the presence of Y-derived material.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972021000600739&tlng=enTurner syndromePCRFISH techniquemosaicismmonosomy X |
| spellingShingle | Jéssica Silva Soares Renata Maria Rabello da Silva Lago Maria Betânia Pereira Toralles Laís Ribeiro Mota Esmeralda Santos Alves Acácia Fernandes Lacerda de Carvalho Searching chromosome mosaicisms in 45,X Turner syndrome: how relevant is it? Archives of Endocrinology and Metabolism Turner syndrome PCR FISH technique mosaicism monosomy X |
| title | Searching chromosome mosaicisms in 45,X Turner syndrome: how relevant is it? |
| title_full | Searching chromosome mosaicisms in 45,X Turner syndrome: how relevant is it? |
| title_fullStr | Searching chromosome mosaicisms in 45,X Turner syndrome: how relevant is it? |
| title_full_unstemmed | Searching chromosome mosaicisms in 45,X Turner syndrome: how relevant is it? |
| title_short | Searching chromosome mosaicisms in 45,X Turner syndrome: how relevant is it? |
| title_sort | searching chromosome mosaicisms in 45 x turner syndrome how relevant is it |
| topic | Turner syndrome PCR FISH technique mosaicism monosomy X |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972021000600739&tlng=en |
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