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Prenatal diagnosis of proximal partial trisomy 1q confirmed by comparative genomic hybridization array: Molecular cytogenetic analysis, fetal pathology and review of the literature
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| Zeitschriftentitel: | Birth Defects Research Part A: Clinical and Molecular Teratology |
|---|---|
| Personen und Körperschaften: | , , , , , , , , , |
| In: | Birth Defects Research Part A: Clinical and Molecular Teratology, 100, 2014, 4, S. 284-293 |
| Format: | E-Article |
| Sprache: | Englisch |
| veröffentlicht: |
Wiley
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| Schlagwörter: |
| author_facet |
Sifakis, Stavros Eleftheriades, Makarios Kappou, Dimitra Murru, Roberta Konstantinidou, Anastasia Orru, Sandro Ziegler, Monika Liehr, Thomas Manolakos, Emmanouil Papoulidis, Ioannis Sifakis, Stavros Eleftheriades, Makarios Kappou, Dimitra Murru, Roberta Konstantinidou, Anastasia Orru, Sandro Ziegler, Monika Liehr, Thomas Manolakos, Emmanouil Papoulidis, Ioannis |
|---|---|
| author |
Sifakis, Stavros Eleftheriades, Makarios Kappou, Dimitra Murru, Roberta Konstantinidou, Anastasia Orru, Sandro Ziegler, Monika Liehr, Thomas Manolakos, Emmanouil Papoulidis, Ioannis |
| spellingShingle |
Sifakis, Stavros Eleftheriades, Makarios Kappou, Dimitra Murru, Roberta Konstantinidou, Anastasia Orru, Sandro Ziegler, Monika Liehr, Thomas Manolakos, Emmanouil Papoulidis, Ioannis Birth Defects Research Part A: Clinical and Molecular Teratology Prenatal diagnosis of proximal partial trisomy 1q confirmed by comparative genomic hybridization array: Molecular cytogenetic analysis, fetal pathology and review of the literature Developmental Biology Embryology General Medicine Pediatrics, Perinatology and Child Health |
| author_sort |
sifakis, stavros |
| spelling |
Sifakis, Stavros Eleftheriades, Makarios Kappou, Dimitra Murru, Roberta Konstantinidou, Anastasia Orru, Sandro Ziegler, Monika Liehr, Thomas Manolakos, Emmanouil Papoulidis, Ioannis 1542-0752 1542-0760 Wiley Developmental Biology Embryology General Medicine Pediatrics, Perinatology and Child Health http://dx.doi.org/10.1002/bdra.23213 <jats:sec><jats:title>BACKGROUND</jats:title><jats:p>Partial trisomy of the long arm of chromosome 1 (1q) is an exceptionally rare chromosomal abnormality and most of the prenatally diagnosed cases are associated with either complete (q11‐qter) or large (q21‐qter) duplications with pre‐ or perinatal demise of all reported cases. The most common sonographic findings associated with this karyotype abnormality include ventriculomegaly, increased nuchal translucency or nuchal fold, renal and cardiac abnormalities, craniofacial dysmorphism, and limb deformities. However, there is a wide spectrum of clinical manifestations due to the great variability in the extent of the duplication size and the possible contribution of additional genetic rearrangements in the final phenotype.</jats:p></jats:sec><jats:sec><jats:title>CASE REPORT</jats:title><jats:p>We report on a female fetus with sole partial trisomy 1q presenting with multiple structural malformations in the second trimester scan. Standard karyotyping demonstrated a large duplication on the proximal end of chromosome 1 [46,XX,dup(1)(pter→q31::q31→q12::q31→qter)] and further application of comparative genomic hybridization array confirmed the diagnosis and offered a precise characterization of the genetic defect.</jats:p></jats:sec><jats:sec><jats:title>CONCLUSION</jats:title><jats:p>A fetus with nonmosaic partial trisomy 1q that was prenatally diagnosed upon multiple abnormal ultrasound findings is presented. A detailed review of the currently available literature on the prenatal diagnostic approach of partial trisomy 1q in terms of fetal sonographic assessment and molecular cytogenetic investigation is also provided. The use of novel molecular techniques such comparative genomic hybridization array could shed further light on the correlation between the genes identified in the chromosomal region of interest and the resultant phenotype. Birth Defects Research (Part A) 100:284–293, 2014. © 2014 Wiley Periodicals, Inc.</jats:p></jats:sec> Prenatal diagnosis of proximal partial trisomy 1q confirmed by comparative genomic hybridization array: Molecular cytogenetic analysis, fetal pathology and review of the literature Birth Defects Research Part A: Clinical and Molecular Teratology |
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Prenatal diagnosis of proximal partial trisomy 1q confirmed by comparative genomic hybridization array: Molecular cytogenetic analysis, fetal pathology and review of the literature |
| title_unstemmed |
Prenatal diagnosis of proximal partial trisomy 1q confirmed by comparative genomic hybridization array: Molecular cytogenetic analysis, fetal pathology and review of the literature |
| title_full |
Prenatal diagnosis of proximal partial trisomy 1q confirmed by comparative genomic hybridization array: Molecular cytogenetic analysis, fetal pathology and review of the literature |
| title_fullStr |
Prenatal diagnosis of proximal partial trisomy 1q confirmed by comparative genomic hybridization array: Molecular cytogenetic analysis, fetal pathology and review of the literature |
| title_full_unstemmed |
Prenatal diagnosis of proximal partial trisomy 1q confirmed by comparative genomic hybridization array: Molecular cytogenetic analysis, fetal pathology and review of the literature |
| title_short |
Prenatal diagnosis of proximal partial trisomy 1q confirmed by comparative genomic hybridization array: Molecular cytogenetic analysis, fetal pathology and review of the literature |
| title_sort |
prenatal diagnosis of proximal partial trisomy 1q confirmed by comparative genomic hybridization array: molecular cytogenetic analysis, fetal pathology and review of the literature |
| topic |
Developmental Biology Embryology General Medicine Pediatrics, Perinatology and Child Health |
| url |
http://dx.doi.org/10.1002/bdra.23213 |
| publishDate |
2014 |
| physical |
284-293 |
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<jats:sec><jats:title>BACKGROUND</jats:title><jats:p>Partial trisomy of the long arm of chromosome 1 (1q) is an exceptionally rare chromosomal abnormality and most of the prenatally diagnosed cases are associated with either complete (q11‐qter) or large (q21‐qter) duplications with pre‐ or perinatal demise of all reported cases. The most common sonographic findings associated with this karyotype abnormality include ventriculomegaly, increased nuchal translucency or nuchal fold, renal and cardiac abnormalities, craniofacial dysmorphism, and limb deformities. However, there is a wide spectrum of clinical manifestations due to the great variability in the extent of the duplication size and the possible contribution of additional genetic rearrangements in the final phenotype.</jats:p></jats:sec><jats:sec><jats:title>CASE REPORT</jats:title><jats:p>We report on a female fetus with sole partial trisomy 1q presenting with multiple structural malformations in the second trimester scan. Standard karyotyping demonstrated a large duplication on the proximal end of chromosome 1 [46,XX,dup(1)(pter→q31::q31→q12::q31→qter)] and further application of comparative genomic hybridization array confirmed the diagnosis and offered a precise characterization of the genetic defect.</jats:p></jats:sec><jats:sec><jats:title>CONCLUSION</jats:title><jats:p>A fetus with nonmosaic partial trisomy 1q that was prenatally diagnosed upon multiple abnormal ultrasound findings is presented. A detailed review of the currently available literature on the prenatal diagnostic approach of partial trisomy 1q in terms of fetal sonographic assessment and molecular cytogenetic investigation is also provided. The use of novel molecular techniques such comparative genomic hybridization array could shed further light on the correlation between the genes identified in the chromosomal region of interest and the resultant phenotype. Birth Defects Research (Part A) 100:284–293, 2014. © 2014 Wiley Periodicals, Inc.</jats:p></jats:sec> |
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| description | <jats:sec><jats:title>BACKGROUND</jats:title><jats:p>Partial trisomy of the long arm of chromosome 1 (1q) is an exceptionally rare chromosomal abnormality and most of the prenatally diagnosed cases are associated with either complete (q11‐qter) or large (q21‐qter) duplications with pre‐ or perinatal demise of all reported cases. The most common sonographic findings associated with this karyotype abnormality include ventriculomegaly, increased nuchal translucency or nuchal fold, renal and cardiac abnormalities, craniofacial dysmorphism, and limb deformities. However, there is a wide spectrum of clinical manifestations due to the great variability in the extent of the duplication size and the possible contribution of additional genetic rearrangements in the final phenotype.</jats:p></jats:sec><jats:sec><jats:title>CASE REPORT</jats:title><jats:p>We report on a female fetus with sole partial trisomy 1q presenting with multiple structural malformations in the second trimester scan. Standard karyotyping demonstrated a large duplication on the proximal end of chromosome 1 [46,XX,dup(1)(pter→q31::q31→q12::q31→qter)] and further application of comparative genomic hybridization array confirmed the diagnosis and offered a precise characterization of the genetic defect.</jats:p></jats:sec><jats:sec><jats:title>CONCLUSION</jats:title><jats:p>A fetus with nonmosaic partial trisomy 1q that was prenatally diagnosed upon multiple abnormal ultrasound findings is presented. A detailed review of the currently available literature on the prenatal diagnostic approach of partial trisomy 1q in terms of fetal sonographic assessment and molecular cytogenetic investigation is also provided. The use of novel molecular techniques such comparative genomic hybridization array could shed further light on the correlation between the genes identified in the chromosomal region of interest and the resultant phenotype. Birth Defects Research (Part A) 100:284–293, 2014. © 2014 Wiley Periodicals, Inc.</jats:p></jats:sec> |
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| spelling | Sifakis, Stavros Eleftheriades, Makarios Kappou, Dimitra Murru, Roberta Konstantinidou, Anastasia Orru, Sandro Ziegler, Monika Liehr, Thomas Manolakos, Emmanouil Papoulidis, Ioannis 1542-0752 1542-0760 Wiley Developmental Biology Embryology General Medicine Pediatrics, Perinatology and Child Health http://dx.doi.org/10.1002/bdra.23213 <jats:sec><jats:title>BACKGROUND</jats:title><jats:p>Partial trisomy of the long arm of chromosome 1 (1q) is an exceptionally rare chromosomal abnormality and most of the prenatally diagnosed cases are associated with either complete (q11‐qter) or large (q21‐qter) duplications with pre‐ or perinatal demise of all reported cases. The most common sonographic findings associated with this karyotype abnormality include ventriculomegaly, increased nuchal translucency or nuchal fold, renal and cardiac abnormalities, craniofacial dysmorphism, and limb deformities. However, there is a wide spectrum of clinical manifestations due to the great variability in the extent of the duplication size and the possible contribution of additional genetic rearrangements in the final phenotype.</jats:p></jats:sec><jats:sec><jats:title>CASE REPORT</jats:title><jats:p>We report on a female fetus with sole partial trisomy 1q presenting with multiple structural malformations in the second trimester scan. Standard karyotyping demonstrated a large duplication on the proximal end of chromosome 1 [46,XX,dup(1)(pter→q31::q31→q12::q31→qter)] and further application of comparative genomic hybridization array confirmed the diagnosis and offered a precise characterization of the genetic defect.</jats:p></jats:sec><jats:sec><jats:title>CONCLUSION</jats:title><jats:p>A fetus with nonmosaic partial trisomy 1q that was prenatally diagnosed upon multiple abnormal ultrasound findings is presented. A detailed review of the currently available literature on the prenatal diagnostic approach of partial trisomy 1q in terms of fetal sonographic assessment and molecular cytogenetic investigation is also provided. The use of novel molecular techniques such comparative genomic hybridization array could shed further light on the correlation between the genes identified in the chromosomal region of interest and the resultant phenotype. Birth Defects Research (Part A) 100:284–293, 2014. © 2014 Wiley Periodicals, Inc.</jats:p></jats:sec> Prenatal diagnosis of proximal partial trisomy 1q confirmed by comparative genomic hybridization array: Molecular cytogenetic analysis, fetal pathology and review of the literature Birth Defects Research Part A: Clinical and Molecular Teratology |
| spellingShingle | Sifakis, Stavros, Eleftheriades, Makarios, Kappou, Dimitra, Murru, Roberta, Konstantinidou, Anastasia, Orru, Sandro, Ziegler, Monika, Liehr, Thomas, Manolakos, Emmanouil, Papoulidis, Ioannis, Birth Defects Research Part A: Clinical and Molecular Teratology, Prenatal diagnosis of proximal partial trisomy 1q confirmed by comparative genomic hybridization array: Molecular cytogenetic analysis, fetal pathology and review of the literature, Developmental Biology, Embryology, General Medicine, Pediatrics, Perinatology and Child Health |
| title | Prenatal diagnosis of proximal partial trisomy 1q confirmed by comparative genomic hybridization array: Molecular cytogenetic analysis, fetal pathology and review of the literature |
| title_full | Prenatal diagnosis of proximal partial trisomy 1q confirmed by comparative genomic hybridization array: Molecular cytogenetic analysis, fetal pathology and review of the literature |
| title_fullStr | Prenatal diagnosis of proximal partial trisomy 1q confirmed by comparative genomic hybridization array: Molecular cytogenetic analysis, fetal pathology and review of the literature |
| title_full_unstemmed | Prenatal diagnosis of proximal partial trisomy 1q confirmed by comparative genomic hybridization array: Molecular cytogenetic analysis, fetal pathology and review of the literature |
| title_short | Prenatal diagnosis of proximal partial trisomy 1q confirmed by comparative genomic hybridization array: Molecular cytogenetic analysis, fetal pathology and review of the literature |
| title_sort | prenatal diagnosis of proximal partial trisomy 1q confirmed by comparative genomic hybridization array: molecular cytogenetic analysis, fetal pathology and review of the literature |
| title_unstemmed | Prenatal diagnosis of proximal partial trisomy 1q confirmed by comparative genomic hybridization array: Molecular cytogenetic analysis, fetal pathology and review of the literature |
| topic | Developmental Biology, Embryology, General Medicine, Pediatrics, Perinatology and Child Health |
| url | http://dx.doi.org/10.1002/bdra.23213 |