Compound phenotype in a girl with r(22), concomitant microdeletion 22q13.32-q13.33 and mosaic monosomy 22
Abstract Background Ring chromosome instability may influence a patient’s phenotype and challenge its interpretation. Results Here, we report a 4-year-old girl with a compound phenotype. Cytogenetic analysis revealed her karyotype to be 46,XX,r(22). aCGH identified a 180 kb 22q13.32 duplication, a d...
Main Authors: | , , , , , , , , , , , , , |
---|---|
Format: | Article |
Language: | English |
Published: |
BMC
2018-04-01
|
Series: | Molecular Cytogenetics |
Subjects: | |
Online Access: | http://link.springer.com/article/10.1186/s13039-018-0375-3 |
id |
doaj-39cc369923cf47e6bcbd29192692f3ea |
---|---|
record_format |
Article |
spelling |
doaj-39cc369923cf47e6bcbd29192692f3ea2020-11-25T01:01:34ZengBMCMolecular Cytogenetics1755-81662018-04-011111910.1186/s13039-018-0375-3Compound phenotype in a girl with r(22), concomitant microdeletion 22q13.32-q13.33 and mosaic monosomy 22Anna A. Kashevarova0Elena O. Belyaeva1Aleksandr M. Nikonov2Olga V. Plotnikova3Nikolay A. Skryabin4Tatyana V. Nikitina5Stanislav A. Vasilyev6Yulia S. Yakovleva7Nadezda P. Babushkina8Ekaterina N. Tolmacheva9Mariya E. Lopatkina10Renata R. Savchenko11Lyudmila P. Nazarenko12Igor N. Lebedev13Research Institute of Medical Genetics, Tomsk NRMCResearch Institute of Medical Genetics, Tomsk NRMCDiagnostic Center of the Altai RegionDiagnostic Center of the Altai RegionResearch Institute of Medical Genetics, Tomsk NRMCResearch Institute of Medical Genetics, Tomsk NRMCResearch Institute of Medical Genetics, Tomsk NRMCResearch Institute of Medical Genetics, Tomsk NRMCResearch Institute of Medical Genetics, Tomsk NRMCResearch Institute of Medical Genetics, Tomsk NRMCResearch Institute of Medical Genetics, Tomsk NRMCResearch Institute of Medical Genetics, Tomsk NRMCResearch Institute of Medical Genetics, Tomsk NRMCResearch Institute of Medical Genetics, Tomsk NRMCAbstract Background Ring chromosome instability may influence a patient’s phenotype and challenge its interpretation. Results Here, we report a 4-year-old girl with a compound phenotype. Cytogenetic analysis revealed her karyotype to be 46,XX,r(22). aCGH identified a 180 kb 22q13.32 duplication, a de novo 2.024 Mb subtelomeric 22q13.32-q13.33 deletion, which is associated with Phelan-McDermid syndrome, and a maternal single gene 382-kb TUSC7 deletion of uncertain clinical significance located in the region of the 3q13.31 deletion syndrome. All chromosomal aberrations were confirmed by real-time PCR in lymphocytes and detected in skin fibroblasts. The deletions were also found in the buccal epithelium. According to FISH analysis, 8% and 24% of the patient’s lymphocytes and skin fibroblasts, respectively, had monosomy 22. Conclusions We believe that a combination of 22q13.32-q13.33 deletion and monosomy 22 in a portion of cells can better define the clinical phenotype of the patient. Importantly, the in vivo presence of monosomic cells indicates ring chromosome instability, which may favor karyotype correction that is significant for the development of chromosomal therapy protocols.http://link.springer.com/article/10.1186/s13039-018-0375-3Compound phenotypePhelan-McDermid syndromeFAM19A5 geneRing chromosome 22Chromosome 22 monosomy |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Anna A. Kashevarova Elena O. Belyaeva Aleksandr M. Nikonov Olga V. Plotnikova Nikolay A. Skryabin Tatyana V. Nikitina Stanislav A. Vasilyev Yulia S. Yakovleva Nadezda P. Babushkina Ekaterina N. Tolmacheva Mariya E. Lopatkina Renata R. Savchenko Lyudmila P. Nazarenko Igor N. Lebedev |
spellingShingle |
Anna A. Kashevarova Elena O. Belyaeva Aleksandr M. Nikonov Olga V. Plotnikova Nikolay A. Skryabin Tatyana V. Nikitina Stanislav A. Vasilyev Yulia S. Yakovleva Nadezda P. Babushkina Ekaterina N. Tolmacheva Mariya E. Lopatkina Renata R. Savchenko Lyudmila P. Nazarenko Igor N. Lebedev Compound phenotype in a girl with r(22), concomitant microdeletion 22q13.32-q13.33 and mosaic monosomy 22 Molecular Cytogenetics Compound phenotype Phelan-McDermid syndrome FAM19A5 gene Ring chromosome 22 Chromosome 22 monosomy |
author_facet |
Anna A. Kashevarova Elena O. Belyaeva Aleksandr M. Nikonov Olga V. Plotnikova Nikolay A. Skryabin Tatyana V. Nikitina Stanislav A. Vasilyev Yulia S. Yakovleva Nadezda P. Babushkina Ekaterina N. Tolmacheva Mariya E. Lopatkina Renata R. Savchenko Lyudmila P. Nazarenko Igor N. Lebedev |
author_sort |
Anna A. Kashevarova |
title |
Compound phenotype in a girl with r(22), concomitant microdeletion 22q13.32-q13.33 and mosaic monosomy 22 |
title_short |
Compound phenotype in a girl with r(22), concomitant microdeletion 22q13.32-q13.33 and mosaic monosomy 22 |
title_full |
Compound phenotype in a girl with r(22), concomitant microdeletion 22q13.32-q13.33 and mosaic monosomy 22 |
title_fullStr |
Compound phenotype in a girl with r(22), concomitant microdeletion 22q13.32-q13.33 and mosaic monosomy 22 |
title_full_unstemmed |
Compound phenotype in a girl with r(22), concomitant microdeletion 22q13.32-q13.33 and mosaic monosomy 22 |
title_sort |
compound phenotype in a girl with r(22), concomitant microdeletion 22q13.32-q13.33 and mosaic monosomy 22 |
publisher |
BMC |
series |
Molecular Cytogenetics |
issn |
1755-8166 |
publishDate |
2018-04-01 |
description |
Abstract Background Ring chromosome instability may influence a patient’s phenotype and challenge its interpretation. Results Here, we report a 4-year-old girl with a compound phenotype. Cytogenetic analysis revealed her karyotype to be 46,XX,r(22). aCGH identified a 180 kb 22q13.32 duplication, a de novo 2.024 Mb subtelomeric 22q13.32-q13.33 deletion, which is associated with Phelan-McDermid syndrome, and a maternal single gene 382-kb TUSC7 deletion of uncertain clinical significance located in the region of the 3q13.31 deletion syndrome. All chromosomal aberrations were confirmed by real-time PCR in lymphocytes and detected in skin fibroblasts. The deletions were also found in the buccal epithelium. According to FISH analysis, 8% and 24% of the patient’s lymphocytes and skin fibroblasts, respectively, had monosomy 22. Conclusions We believe that a combination of 22q13.32-q13.33 deletion and monosomy 22 in a portion of cells can better define the clinical phenotype of the patient. Importantly, the in vivo presence of monosomic cells indicates ring chromosome instability, which may favor karyotype correction that is significant for the development of chromosomal therapy protocols. |
topic |
Compound phenotype Phelan-McDermid syndrome FAM19A5 gene Ring chromosome 22 Chromosome 22 monosomy |
url |
http://link.springer.com/article/10.1186/s13039-018-0375-3 |
work_keys_str_mv |
AT annaakashevarova compoundphenotypeinagirlwithr22concomitantmicrodeletion22q1332q1333andmosaicmonosomy22 AT elenaobelyaeva compoundphenotypeinagirlwithr22concomitantmicrodeletion22q1332q1333andmosaicmonosomy22 AT aleksandrmnikonov compoundphenotypeinagirlwithr22concomitantmicrodeletion22q1332q1333andmosaicmonosomy22 AT olgavplotnikova compoundphenotypeinagirlwithr22concomitantmicrodeletion22q1332q1333andmosaicmonosomy22 AT nikolayaskryabin compoundphenotypeinagirlwithr22concomitantmicrodeletion22q1332q1333andmosaicmonosomy22 AT tatyanavnikitina compoundphenotypeinagirlwithr22concomitantmicrodeletion22q1332q1333andmosaicmonosomy22 AT stanislavavasilyev compoundphenotypeinagirlwithr22concomitantmicrodeletion22q1332q1333andmosaicmonosomy22 AT yuliasyakovleva compoundphenotypeinagirlwithr22concomitantmicrodeletion22q1332q1333andmosaicmonosomy22 AT nadezdapbabushkina compoundphenotypeinagirlwithr22concomitantmicrodeletion22q1332q1333andmosaicmonosomy22 AT ekaterinantolmacheva compoundphenotypeinagirlwithr22concomitantmicrodeletion22q1332q1333andmosaicmonosomy22 AT mariyaelopatkina compoundphenotypeinagirlwithr22concomitantmicrodeletion22q1332q1333andmosaicmonosomy22 AT renatarsavchenko compoundphenotypeinagirlwithr22concomitantmicrodeletion22q1332q1333andmosaicmonosomy22 AT lyudmilapnazarenko compoundphenotypeinagirlwithr22concomitantmicrodeletion22q1332q1333andmosaicmonosomy22 AT igornlebedev compoundphenotypeinagirlwithr22concomitantmicrodeletion22q1332q1333andmosaicmonosomy22 |
_version_ |
1725208571287699456 |