First case of two supernumerary markers derived from chromosome 5 and chromosome 8
Abstract Background Small supernumerary marker chromosomes (sSMC) are additional centric chromosome fragments too small to be identified by banding cytogenetics alone. A sSMC can originate from any chromosome and it is estimated that 70% of sSMC are de novo, while 30% are inherited. Cases of sSMC de...
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
BMC
2022-06-01
|
| Series: | Molecular Cytogenetics |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13039-022-00601-5 |
| _version_ | 1818242560431226880 |
|---|---|
| author | Roberta Giansante Chiara Palka Bayard De Volo Melissa Alfonsi Elisena Morizio Paolo Guanciali Franchi |
| author_facet | Roberta Giansante Chiara Palka Bayard De Volo Melissa Alfonsi Elisena Morizio Paolo Guanciali Franchi |
| author_sort | Roberta Giansante |
| collection | DOAJ |
| description | Abstract Background Small supernumerary marker chromosomes (sSMC) are additional centric chromosome fragments too small to be identified by banding cytogenetics alone. A sSMC can originate from any chromosome and it is estimated that 70% of sSMC are de novo, while 30% are inherited. Cases of sSMC derived from chromosome 5 (sSMC5) are rare, accounting for1.4% of all reported sSMC cases. In these patients, the most common reported features are macrocephaly, dysmorphic facial features, heart defects, growth retardation, hypotonia, and intellectual disability. Also sSMC derived from chromosome 8 are very rare and the phenotype of patients with sSMC8 is very variable. Common clinical features of the patients include developmental delay, mental retardation, intellectual disability, hypotonia, hypospadias, attention deficit hyperactivity disorders (ADHD), skeletal anomalies, dysmorphic facial features, and renal dysplasia. To the best of our knowledge, in literature there are no cases with coexistence of sSMC5 and sSMC8, so we reviewed the literature to compare cases with SMC5 and those with SMC8 separately. This study is aimed to highlight the unique findings of a patient with the coexistence of sSMC5 and sSMC8. Case presentation We describe a female patient with two supernumerary markers derived from chromosome 5 (SMC5) and chromosome 8 (SMC8). The patient was born prematurely at 30 weeks with respiratory distress and bronchodysplasia. On physical examination she presented dysmorphic features, respiratory issues, congenital heart defect, developmental delay, and intellectual disability. The G-banded chromosome analysis on cultured lymphocytes revealed in all the analyzed cells a female karyotype with the presence of two supernumerary chromosomal markers and the array-CGH highlighted the region and the size of these two duplications. We also used the fluorescent in situ hybridization analysis (FISH) using painting of chromosomes 5 and 8 to confirm the origin of the two sSMC. So, the karyotype of the patient was: 48, XX, +mar1, +mar2. Conclusions This is the first case with two markers: one from chromosome 5 and one from chromosome 8. Based on the data reported, we can affirm that the phenotype of our patient is probably caused mainly by the presence of the sSMC. |
| first_indexed | 2024-12-12T13:47:10Z |
| format | Article |
| id | doaj.art-131d0329eabb4514837b4b79506ce3cd |
| institution | Directory Open Access Journal |
| issn | 1755-8166 |
| language | English |
| last_indexed | 2024-12-12T13:47:10Z |
| publishDate | 2022-06-01 |
| publisher | BMC |
| record_format | Article |
| series | Molecular Cytogenetics |
| spelling | doaj.art-131d0329eabb4514837b4b79506ce3cd2022-12-22T00:22:39ZengBMCMolecular Cytogenetics1755-81662022-06-0115111010.1186/s13039-022-00601-5First case of two supernumerary markers derived from chromosome 5 and chromosome 8Roberta Giansante0Chiara Palka Bayard De Volo1Melissa Alfonsi2Elisena Morizio3Paolo Guanciali Franchi4Department of Medical Genetics, “G. D’Annunzio” UniversityDepartment of Medical Genetics, “SS. Annunziata Hospital”Department of Medical Genetics, “SS. Annunziata Hospital”Department of Medical Genetics, “G. D’Annunzio” UniversityDepartment of Medical Genetics, “G. D’Annunzio” UniversityAbstract Background Small supernumerary marker chromosomes (sSMC) are additional centric chromosome fragments too small to be identified by banding cytogenetics alone. A sSMC can originate from any chromosome and it is estimated that 70% of sSMC are de novo, while 30% are inherited. Cases of sSMC derived from chromosome 5 (sSMC5) are rare, accounting for1.4% of all reported sSMC cases. In these patients, the most common reported features are macrocephaly, dysmorphic facial features, heart defects, growth retardation, hypotonia, and intellectual disability. Also sSMC derived from chromosome 8 are very rare and the phenotype of patients with sSMC8 is very variable. Common clinical features of the patients include developmental delay, mental retardation, intellectual disability, hypotonia, hypospadias, attention deficit hyperactivity disorders (ADHD), skeletal anomalies, dysmorphic facial features, and renal dysplasia. To the best of our knowledge, in literature there are no cases with coexistence of sSMC5 and sSMC8, so we reviewed the literature to compare cases with SMC5 and those with SMC8 separately. This study is aimed to highlight the unique findings of a patient with the coexistence of sSMC5 and sSMC8. Case presentation We describe a female patient with two supernumerary markers derived from chromosome 5 (SMC5) and chromosome 8 (SMC8). The patient was born prematurely at 30 weeks with respiratory distress and bronchodysplasia. On physical examination she presented dysmorphic features, respiratory issues, congenital heart defect, developmental delay, and intellectual disability. The G-banded chromosome analysis on cultured lymphocytes revealed in all the analyzed cells a female karyotype with the presence of two supernumerary chromosomal markers and the array-CGH highlighted the region and the size of these two duplications. We also used the fluorescent in situ hybridization analysis (FISH) using painting of chromosomes 5 and 8 to confirm the origin of the two sSMC. So, the karyotype of the patient was: 48, XX, +mar1, +mar2. Conclusions This is the first case with two markers: one from chromosome 5 and one from chromosome 8. Based on the data reported, we can affirm that the phenotype of our patient is probably caused mainly by the presence of the sSMC.https://doi.org/10.1186/s13039-022-00601-5Supernumerary marker chromosomeChromosome 5Chromosome 8In situ hybridizationDysmorphic facial features |
| spellingShingle | Roberta Giansante Chiara Palka Bayard De Volo Melissa Alfonsi Elisena Morizio Paolo Guanciali Franchi First case of two supernumerary markers derived from chromosome 5 and chromosome 8 Molecular Cytogenetics Supernumerary marker chromosome Chromosome 5 Chromosome 8 In situ hybridization Dysmorphic facial features |
| title | First case of two supernumerary markers derived from chromosome 5 and chromosome 8 |
| title_full | First case of two supernumerary markers derived from chromosome 5 and chromosome 8 |
| title_fullStr | First case of two supernumerary markers derived from chromosome 5 and chromosome 8 |
| title_full_unstemmed | First case of two supernumerary markers derived from chromosome 5 and chromosome 8 |
| title_short | First case of two supernumerary markers derived from chromosome 5 and chromosome 8 |
| title_sort | first case of two supernumerary markers derived from chromosome 5 and chromosome 8 |
| topic | Supernumerary marker chromosome Chromosome 5 Chromosome 8 In situ hybridization Dysmorphic facial features |
| url | https://doi.org/10.1186/s13039-022-00601-5 |
| work_keys_str_mv | AT robertagiansante firstcaseoftwosupernumerarymarkersderivedfromchromosome5andchromosome8 AT chiarapalkabayarddevolo firstcaseoftwosupernumerarymarkersderivedfromchromosome5andchromosome8 AT melissaalfonsi firstcaseoftwosupernumerarymarkersderivedfromchromosome5andchromosome8 AT elisenamorizio firstcaseoftwosupernumerarymarkersderivedfromchromosome5andchromosome8 AT paologuancialifranchi firstcaseoftwosupernumerarymarkersderivedfromchromosome5andchromosome8 |