Monosomy 3pter-p25.3 and Trisomy 1q42.13-qter in a Boy With Profound Growth and Developmental Restriction, Multiple Congenital Anomalies, and Early Death
Albeit rare, 3pter-p25 monosomy or 1q42-qter trisomy syndromes have been documented in the literature. Here, we report a unique case with a combination of 3pter-p25 monosomy and 1q42-qter trisomy, delineated by array comparative genomic hybridization analysis. The proband was a newborn male with mul...
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| Format: | Article |
| Language: | English |
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Elsevier
2013-06-01
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| Series: | Pediatrics and Neonatology |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S1875957213000107 |
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| author | Chumei Li Vikas Mahajan Jia-Chi Wang Bosco Paes |
| author_facet | Chumei Li Vikas Mahajan Jia-Chi Wang Bosco Paes |
| author_sort | Chumei Li |
| collection | DOAJ |
| description | Albeit rare, 3pter-p25 monosomy or 1q42-qter trisomy syndromes have been documented in the literature. Here, we report a unique case with a combination of 3pter-p25 monosomy and 1q42-qter trisomy, delineated by array comparative genomic hybridization analysis. The proband was a newborn male with multiple congenital anomalies that included brain malformation, ocular anomalies, trachea-laryngomalacia, cardiac defects, intestinal malrotation, and cutaneous findings in conjunction with biochemical anomalies, profound growth and developmental restriction, and early death. To our knowledge, this is the first case report of this unique chromosomal imbalance. |
| format | Article |
| id | doaj-art-e5fcd80e7e0d48ac97b96e65746c36fd |
| institution | OA Journals |
| issn | 1875-9572 |
| language | English |
| publishDate | 2013-06-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Pediatrics and Neonatology |
| spelling | doaj-art-e5fcd80e7e0d48ac97b96e65746c36fd2025-08-20T02:28:09ZengElsevierPediatrics and Neonatology1875-95722013-06-0154320220610.1016/j.pedneo.2013.01.009Monosomy 3pter-p25.3 and Trisomy 1q42.13-qter in a Boy With Profound Growth and Developmental Restriction, Multiple Congenital Anomalies, and Early DeathChumei Li0Vikas Mahajan1Jia-Chi Wang2Bosco Paes3Division of Clinical Genetics, McMaster University, Hamilton, CanadaNeonatal Division, Department of Pediatrics, McMaster University, Hamilton, CanadaDepartment of Pathology and Molecular Medicine, McMaster University, Hamilton, CanadaNeonatal Division, Department of Pediatrics, McMaster University, Hamilton, CanadaAlbeit rare, 3pter-p25 monosomy or 1q42-qter trisomy syndromes have been documented in the literature. Here, we report a unique case with a combination of 3pter-p25 monosomy and 1q42-qter trisomy, delineated by array comparative genomic hybridization analysis. The proband was a newborn male with multiple congenital anomalies that included brain malformation, ocular anomalies, trachea-laryngomalacia, cardiac defects, intestinal malrotation, and cutaneous findings in conjunction with biochemical anomalies, profound growth and developmental restriction, and early death. To our knowledge, this is the first case report of this unique chromosomal imbalance.http://www.sciencedirect.com/science/article/pii/S1875957213000107chromosome microarrayderivative chromosomemonosomy 3p25multiple congenital anomaliestrisomy 1q42 |
| spellingShingle | Chumei Li Vikas Mahajan Jia-Chi Wang Bosco Paes Monosomy 3pter-p25.3 and Trisomy 1q42.13-qter in a Boy With Profound Growth and Developmental Restriction, Multiple Congenital Anomalies, and Early Death Pediatrics and Neonatology chromosome microarray derivative chromosome monosomy 3p25 multiple congenital anomalies trisomy 1q42 |
| title | Monosomy 3pter-p25.3 and Trisomy 1q42.13-qter in a Boy With Profound Growth and Developmental Restriction, Multiple Congenital Anomalies, and Early Death |
| title_full | Monosomy 3pter-p25.3 and Trisomy 1q42.13-qter in a Boy With Profound Growth and Developmental Restriction, Multiple Congenital Anomalies, and Early Death |
| title_fullStr | Monosomy 3pter-p25.3 and Trisomy 1q42.13-qter in a Boy With Profound Growth and Developmental Restriction, Multiple Congenital Anomalies, and Early Death |
| title_full_unstemmed | Monosomy 3pter-p25.3 and Trisomy 1q42.13-qter in a Boy With Profound Growth and Developmental Restriction, Multiple Congenital Anomalies, and Early Death |
| title_short | Monosomy 3pter-p25.3 and Trisomy 1q42.13-qter in a Boy With Profound Growth and Developmental Restriction, Multiple Congenital Anomalies, and Early Death |
| title_sort | monosomy 3pter p25 3 and trisomy 1q42 13 qter in a boy with profound growth and developmental restriction multiple congenital anomalies and early death |
| topic | chromosome microarray derivative chromosome monosomy 3p25 multiple congenital anomalies trisomy 1q42 |
| url | http://www.sciencedirect.com/science/article/pii/S1875957213000107 |
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