Familial small supernumerary marker chromosome (sSMC) (14)(:p11-q11:) [corrected] in a child with translocation Down syndrome
We report a case of familial small supernumerary marker chromosome (sSMC)in a child with translocation Down syndrome (DS)and mother. The GTG-banded chromosomal analysis of DS child revealed 47,XY,+21,+mar and mother karyotype was 47,XX,+mar. The GTG-banded sSMC had a similar morphology of small acrocentric chromosomes. Fluorescence in situ hybridization (FISH)evaluation of sSMC using centromere probes(13/21,14/22,22)confirmed sSMC as derivative chromosome 14. The sSMC was not specifically stained with whole chromosome paint and arm-specific probes for chromosome 14;thus it has been described as der(14)(:p11-q11:).The phenotypic changes were not evident, may be due to trisomy condition in the child or the sSMC contain repetitive sequences.
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| Medienart: |
E-Artikel |
| Erscheinungsjahr: |
2009 |
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| Erschienen: |
2009 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:76 |
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| Enthalten in: |
Indian journal of pediatrics - 76(2009), 12 vom: 28. Dez., Seite 1265-7 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Vundinti, Babu Rao [VerfasserIn] |
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Date Completed 21.04.2010 Date Revised 20.10.2021 published: Print-Electronic ErratumIn: Indian J Pediatr. 2010 Jan;77(1):35 Citation Status MEDLINE |
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| doi: |
10.1007/s12098-009-0243-6 |
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| PPN (Katalog-ID): |
NLM193777452 |
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| 245 | 1 | 0 | |a Familial small supernumerary marker chromosome (sSMC) (14)(:p11-q11:) [corrected] in a child with translocation Down syndrome |
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| 500 | |a Date Completed 21.04.2010 | ||
| 500 | |a Date Revised 20.10.2021 | ||
| 500 | |a published: Print-Electronic | ||
| 500 | |a ErratumIn: Indian J Pediatr. 2010 Jan;77(1):35 | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a We report a case of familial small supernumerary marker chromosome (sSMC)in a child with translocation Down syndrome (DS)and mother. The GTG-banded chromosomal analysis of DS child revealed 47,XY,+21,+mar and mother karyotype was 47,XX,+mar. The GTG-banded sSMC had a similar morphology of small acrocentric chromosomes. Fluorescence in situ hybridization (FISH)evaluation of sSMC using centromere probes(13/21,14/22,22)confirmed sSMC as derivative chromosome 14. The sSMC was not specifically stained with whole chromosome paint and arm-specific probes for chromosome 14;thus it has been described as der(14)(:p11-q11:).The phenotypic changes were not evident, may be due to trisomy condition in the child or the sSMC contain repetitive sequences | ||
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| 700 | 1 | |a Ghosh, Kanjaksha |e verfasserin |4 aut | |
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