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Minimal phenotype in a girl with trisomy 15q due to t(X;15)(q22.3;q11.2) translocation
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| Zeitschriftentitel: | American Journal of Medical Genetics Part A |
|---|---|
| Personen und Körperschaften: | , , , , , , , , , , , , , , , |
| In: | American Journal of Medical Genetics Part A, 140A, 2006, 5, S. 442-452 |
| Format: | E-Article |
| Sprache: | Englisch |
| veröffentlicht: |
Wiley
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| Schlagwörter: |
| author_facet |
Stankiewicz, Paweł Kuechler, Alma Eller, C. Daniel Sahoo, Trilochan Baldermann, Christiane Lieser, Ulla Hesse, Martin Gläser, Christiane Hagemann, Monika Yatsenko, Svetlana A. Liehr, Thomas Horsthemke, Bernhard Claussen, Uwe Marahrens, York Lupski, James R. Hansmann, Ingo Stankiewicz, Paweł Kuechler, Alma Eller, C. Daniel Sahoo, Trilochan Baldermann, Christiane Lieser, Ulla Hesse, Martin Gläser, Christiane Hagemann, Monika Yatsenko, Svetlana A. Liehr, Thomas Horsthemke, Bernhard Claussen, Uwe Marahrens, York Lupski, James R. Hansmann, Ingo |
|---|---|
| author |
Stankiewicz, Paweł Kuechler, Alma Eller, C. Daniel Sahoo, Trilochan Baldermann, Christiane Lieser, Ulla Hesse, Martin Gläser, Christiane Hagemann, Monika Yatsenko, Svetlana A. Liehr, Thomas Horsthemke, Bernhard Claussen, Uwe Marahrens, York Lupski, James R. Hansmann, Ingo |
| spellingShingle |
Stankiewicz, Paweł Kuechler, Alma Eller, C. Daniel Sahoo, Trilochan Baldermann, Christiane Lieser, Ulla Hesse, Martin Gläser, Christiane Hagemann, Monika Yatsenko, Svetlana A. Liehr, Thomas Horsthemke, Bernhard Claussen, Uwe Marahrens, York Lupski, James R. Hansmann, Ingo American Journal of Medical Genetics Part A Minimal phenotype in a girl with trisomy 15q due to t(X;15)(q22.3;q11.2) translocation Genetics (clinical) Genetics |
| author_sort |
stankiewicz, paweł |
| spelling |
Stankiewicz, Paweł Kuechler, Alma Eller, C. Daniel Sahoo, Trilochan Baldermann, Christiane Lieser, Ulla Hesse, Martin Gläser, Christiane Hagemann, Monika Yatsenko, Svetlana A. Liehr, Thomas Horsthemke, Bernhard Claussen, Uwe Marahrens, York Lupski, James R. Hansmann, Ingo 1552-4825 1552-4833 Wiley Genetics (clinical) Genetics http://dx.doi.org/10.1002/ajmg.a.31096 <jats:title>Abstract</jats:title><jats:p>Few cases of de novo unbalanced X;autosome translocations associated with a normal or mild dysmorphic phenotype have been described. We report a 3‐year‐old dizygotic female twin with prenatally ascertained increased nuchal translucency. Prenatal chromosome studies revealed nearly complete trisomy 15 due to a de novo unbalanced translocation t(X;15)(q22;q11.2) confirmed postnatally. A mild phenotype was observed with normal birth measurements, minor facial dysmorphic features (hypertelorism, short broad nose, and a relatively long philtrum), and moderate developmental delay at the age of 3 years in comparison to her male fraternal twin. Replication timing utilizing BrdU and acridine‐orange staining showed that the der(X) chromosome was late‐replicating with variable spreading of inactivation into the translocated 15q segment. The der(X) was determined to be of paternal origin by analyses of polymorphic markers and CGG‐repeat at <jats:italic>FMR1</jats:italic>. Methylation analysis at the <jats:italic>SNRPN</jats:italic> locus and analysis of microsatellites on 15q revealed paternal isodisomy with double dosage for all markers and the unmethylated <jats:italic>SNRPN</jats:italic> gene. The Xq breakpoint was mapped within two overlapping BAC clones RP11‐575K24 and RP13‐483F6 at Xq22.3 and the 15q breakpoint to 15q11.2, within overlapping clones RP11‐509A17 and RP11‐382A4 that are all significantly enriched for LINE‐1 elements (36.6%, 43.0%, 26.6%, 22.0%, respectively). We speculate that the attenuated phenotype may be due to inactivation spreading into 15q, potentially facilitated by the enrichment of LINE‐1 elements at the breakpoints. In silico analysis of breakpoint regions revealed the presence of highly identical low‐copy repeats (LCRs) at both breakpoints, potentially involved in generating the translocation. © 2006 Wiley‐Liss, Inc.</jats:p> Minimal phenotype in a girl with trisomy 15q due to t(X;15)(q22.3;q11.2) translocation American Journal of Medical Genetics Part A |
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| title |
Minimal phenotype in a girl with trisomy 15q due to t(X;15)(q22.3;q11.2) translocation |
| title_unstemmed |
Minimal phenotype in a girl with trisomy 15q due to t(X;15)(q22.3;q11.2) translocation |
| title_full |
Minimal phenotype in a girl with trisomy 15q due to t(X;15)(q22.3;q11.2) translocation |
| title_fullStr |
Minimal phenotype in a girl with trisomy 15q due to t(X;15)(q22.3;q11.2) translocation |
| title_full_unstemmed |
Minimal phenotype in a girl with trisomy 15q due to t(X;15)(q22.3;q11.2) translocation |
| title_short |
Minimal phenotype in a girl with trisomy 15q due to t(X;15)(q22.3;q11.2) translocation |
| title_sort |
minimal phenotype in a girl with trisomy 15q due to t(x;15)(q22.3;q11.2) translocation |
| topic |
Genetics (clinical) Genetics |
| url |
http://dx.doi.org/10.1002/ajmg.a.31096 |
| publishDate |
2006 |
| physical |
442-452 |
| description |
<jats:title>Abstract</jats:title><jats:p>Few cases of de novo unbalanced X;autosome translocations associated with a normal or mild dysmorphic phenotype have been described. We report a 3‐year‐old dizygotic female twin with prenatally ascertained increased nuchal translucency. Prenatal chromosome studies revealed nearly complete trisomy 15 due to a de novo unbalanced translocation t(X;15)(q22;q11.2) confirmed postnatally. A mild phenotype was observed with normal birth measurements, minor facial dysmorphic features (hypertelorism, short broad nose, and a relatively long philtrum), and moderate developmental delay at the age of 3 years in comparison to her male fraternal twin. Replication timing utilizing BrdU and acridine‐orange staining showed that the der(X) chromosome was late‐replicating with variable spreading of inactivation into the translocated 15q segment. The der(X) was determined to be of paternal origin by analyses of polymorphic markers and CGG‐repeat at <jats:italic>FMR1</jats:italic>. Methylation analysis at the <jats:italic>SNRPN</jats:italic> locus and analysis of microsatellites on 15q revealed paternal isodisomy with double dosage for all markers and the unmethylated <jats:italic>SNRPN</jats:italic> gene. The Xq breakpoint was mapped within two overlapping BAC clones RP11‐575K24 and RP13‐483F6 at Xq22.3 and the 15q breakpoint to 15q11.2, within overlapping clones RP11‐509A17 and RP11‐382A4 that are all significantly enriched for LINE‐1 elements (36.6%, 43.0%, 26.6%, 22.0%, respectively). We speculate that the attenuated phenotype may be due to inactivation spreading into 15q, potentially facilitated by the enrichment of LINE‐1 elements at the breakpoints. In silico analysis of breakpoint regions revealed the presence of highly identical low‐copy repeats (LCRs) at both breakpoints, potentially involved in generating the translocation. © 2006 Wiley‐Liss, Inc.</jats:p> |
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| author | Stankiewicz, Paweł, Kuechler, Alma, Eller, C. Daniel, Sahoo, Trilochan, Baldermann, Christiane, Lieser, Ulla, Hesse, Martin, Gläser, Christiane, Hagemann, Monika, Yatsenko, Svetlana A., Liehr, Thomas, Horsthemke, Bernhard, Claussen, Uwe, Marahrens, York, Lupski, James R., Hansmann, Ingo |
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| description | <jats:title>Abstract</jats:title><jats:p>Few cases of de novo unbalanced X;autosome translocations associated with a normal or mild dysmorphic phenotype have been described. We report a 3‐year‐old dizygotic female twin with prenatally ascertained increased nuchal translucency. Prenatal chromosome studies revealed nearly complete trisomy 15 due to a de novo unbalanced translocation t(X;15)(q22;q11.2) confirmed postnatally. A mild phenotype was observed with normal birth measurements, minor facial dysmorphic features (hypertelorism, short broad nose, and a relatively long philtrum), and moderate developmental delay at the age of 3 years in comparison to her male fraternal twin. Replication timing utilizing BrdU and acridine‐orange staining showed that the der(X) chromosome was late‐replicating with variable spreading of inactivation into the translocated 15q segment. The der(X) was determined to be of paternal origin by analyses of polymorphic markers and CGG‐repeat at <jats:italic>FMR1</jats:italic>. Methylation analysis at the <jats:italic>SNRPN</jats:italic> locus and analysis of microsatellites on 15q revealed paternal isodisomy with double dosage for all markers and the unmethylated <jats:italic>SNRPN</jats:italic> gene. The Xq breakpoint was mapped within two overlapping BAC clones RP11‐575K24 and RP13‐483F6 at Xq22.3 and the 15q breakpoint to 15q11.2, within overlapping clones RP11‐509A17 and RP11‐382A4 that are all significantly enriched for LINE‐1 elements (36.6%, 43.0%, 26.6%, 22.0%, respectively). We speculate that the attenuated phenotype may be due to inactivation spreading into 15q, potentially facilitated by the enrichment of LINE‐1 elements at the breakpoints. In silico analysis of breakpoint regions revealed the presence of highly identical low‐copy repeats (LCRs) at both breakpoints, potentially involved in generating the translocation. © 2006 Wiley‐Liss, Inc.</jats:p> |
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| spelling | Stankiewicz, Paweł Kuechler, Alma Eller, C. Daniel Sahoo, Trilochan Baldermann, Christiane Lieser, Ulla Hesse, Martin Gläser, Christiane Hagemann, Monika Yatsenko, Svetlana A. Liehr, Thomas Horsthemke, Bernhard Claussen, Uwe Marahrens, York Lupski, James R. Hansmann, Ingo 1552-4825 1552-4833 Wiley Genetics (clinical) Genetics http://dx.doi.org/10.1002/ajmg.a.31096 <jats:title>Abstract</jats:title><jats:p>Few cases of de novo unbalanced X;autosome translocations associated with a normal or mild dysmorphic phenotype have been described. We report a 3‐year‐old dizygotic female twin with prenatally ascertained increased nuchal translucency. Prenatal chromosome studies revealed nearly complete trisomy 15 due to a de novo unbalanced translocation t(X;15)(q22;q11.2) confirmed postnatally. A mild phenotype was observed with normal birth measurements, minor facial dysmorphic features (hypertelorism, short broad nose, and a relatively long philtrum), and moderate developmental delay at the age of 3 years in comparison to her male fraternal twin. Replication timing utilizing BrdU and acridine‐orange staining showed that the der(X) chromosome was late‐replicating with variable spreading of inactivation into the translocated 15q segment. The der(X) was determined to be of paternal origin by analyses of polymorphic markers and CGG‐repeat at <jats:italic>FMR1</jats:italic>. Methylation analysis at the <jats:italic>SNRPN</jats:italic> locus and analysis of microsatellites on 15q revealed paternal isodisomy with double dosage for all markers and the unmethylated <jats:italic>SNRPN</jats:italic> gene. The Xq breakpoint was mapped within two overlapping BAC clones RP11‐575K24 and RP13‐483F6 at Xq22.3 and the 15q breakpoint to 15q11.2, within overlapping clones RP11‐509A17 and RP11‐382A4 that are all significantly enriched for LINE‐1 elements (36.6%, 43.0%, 26.6%, 22.0%, respectively). We speculate that the attenuated phenotype may be due to inactivation spreading into 15q, potentially facilitated by the enrichment of LINE‐1 elements at the breakpoints. In silico analysis of breakpoint regions revealed the presence of highly identical low‐copy repeats (LCRs) at both breakpoints, potentially involved in generating the translocation. © 2006 Wiley‐Liss, Inc.</jats:p> Minimal phenotype in a girl with trisomy 15q due to t(X;15)(q22.3;q11.2) translocation American Journal of Medical Genetics Part A |
| spellingShingle | Stankiewicz, Paweł, Kuechler, Alma, Eller, C. Daniel, Sahoo, Trilochan, Baldermann, Christiane, Lieser, Ulla, Hesse, Martin, Gläser, Christiane, Hagemann, Monika, Yatsenko, Svetlana A., Liehr, Thomas, Horsthemke, Bernhard, Claussen, Uwe, Marahrens, York, Lupski, James R., Hansmann, Ingo, American Journal of Medical Genetics Part A, Minimal phenotype in a girl with trisomy 15q due to t(X;15)(q22.3;q11.2) translocation, Genetics (clinical), Genetics |
| title | Minimal phenotype in a girl with trisomy 15q due to t(X;15)(q22.3;q11.2) translocation |
| title_full | Minimal phenotype in a girl with trisomy 15q due to t(X;15)(q22.3;q11.2) translocation |
| title_fullStr | Minimal phenotype in a girl with trisomy 15q due to t(X;15)(q22.3;q11.2) translocation |
| title_full_unstemmed | Minimal phenotype in a girl with trisomy 15q due to t(X;15)(q22.3;q11.2) translocation |
| title_short | Minimal phenotype in a girl with trisomy 15q due to t(X;15)(q22.3;q11.2) translocation |
| title_sort | minimal phenotype in a girl with trisomy 15q due to t(x;15)(q22.3;q11.2) translocation |
| title_unstemmed | Minimal phenotype in a girl with trisomy 15q due to t(X;15)(q22.3;q11.2) translocation |
| topic | Genetics (clinical), Genetics |
| url | http://dx.doi.org/10.1002/ajmg.a.31096 |