دورية أكاديمية
Inverted duplication of 15q with terminal deletion in a multiple malformed newborn with intrauterine growth failure and lethal phenotype.
| العنوان: | Inverted duplication of 15q with terminal deletion in a multiple malformed newborn with intrauterine growth failure and lethal phenotype. |
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| المؤلفون: | Genesio R; Dipartimento di Biologia e Patologia Cellulare e Molecolare, Università Federico II, Napoli, Italy., De Brasi D, Conti A, Borghese A, Di Micco P, Di Costanzo P, Paladini D, Ungaro P, Nitsch L |
| المصدر: | American journal of medical genetics. Part A [Am J Med Genet A] 2004 Aug 01; Vol. 128A (4), pp. 422-8. |
| نوع المنشور: | Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
| اللغة: | English |
| بيانات الدورية: | Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print Cited Medium: Print ISSN: 1552-4825 (Print) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: Hoboken, N.J. : Wiley-Blackwell Original Publication: Hoboken, N.J. : Wiley-Liss, c2003- |
| مواضيع طبية MeSH: | Chromosome Deletion* , Chromosome Inversion* , Chromosomes, Human, Pair 15* , Phenotype* , Trisomy*, Abnormalities, Multiple/*genetics , Fetal Growth Retardation/*genetics, Abnormalities, Multiple/diagnosis ; Clubfoot/genetics ; Cytogenetic Analysis ; Female ; Heart Defects, Congenital/genetics ; Humans ; In Situ Hybridization, Fluorescence ; Infant, Newborn ; Karyotyping ; Kidney/abnormalities ; Microsatellite Repeats ; Pedigree ; Ultrasonography, Prenatal |
| مستخلص: | We describe the cytogenetic and molecular characterization of an inverted duplication of chromosome 15q with evidence of a terminal deletion of the same rearranged chromosome. The proband was a multiple congenital malformed female with a prenatal diagnosis of trisomy 15q and an extremely severe clinical course. The phenotype of the patient was characterized by marked intrauterine growth retardation, congenital heart defect, "horseshoe" kidney, hand contractures, and clubfeet. The exitus came at 20 days because of progressive cardio-respiratory impairment. Overall, the clinical phenotype appeared more severe than usual trisomy 15q syndrome. Postnatal cytogenetic and molecular studies unraveled a "de novo" inverted duplication of 15q (q21.3-->q26.3), associated with the deletion of the 15q telomere and part of the band 15q26.3. A single copy region spanning approximately 600 kb between the duplicated segments was present. Correlation between the clinical findings of the patient and the phenotype of trisomy 15q reported in literature is also provided. (Copyright 2004 Wiley-Liss, Inc.) |
| التعليقات: | Erratum in: Am J Med Genet A. 2005 Jul 1;136(1):113. Rita, Genesio [corrected to Genesio, Rita]; Daniele, De Brasi [corrected to De Brasi, Daniele]; Anna, Conti [corrected to Conti, Anna]; Annamaria, Borghese [corrected to Borghese, Annamaria]; Pasqua, Di Micco [corrected to Di Micco, Pasqua]; Pasquale, Di C. |
| تواريخ الأحداث: | Date Created: 20040721 Date Completed: 20050218 Latest Revision: 20200930 |
| رمز التحديث: | 20231215 |
| DOI: | 10.1002/ajmg.a.30112 |
| PMID: | 15264291 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 1552-4825 |
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| DOI: | 10.1002/ajmg.a.30112 |