New case of non-mosaic tetrasomy 9p in a severely polymalformed newborn girl
| Autor: | Mariluce Riegel, Lucy Magalhães Freitas, Lilia Maria de Azevedo Moreira, Fábio Alexandre Ferreira Gusmão |
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| Rok vydání: | 2003 |
| Předmět: |
Genetics
Embryology Pathology medicine.medical_specialty medicine.diagnostic_test media_common.quotation_subject Aneuploidy Chromosome Chromosome 9 Karyotype General Medicine Biology medicine.disease Pediatrics Perinatology and Child Health Tetrasomy medicine Girl Tetrasomy 9p Developmental Biology media_common Fluorescence in situ hybridization |
| Zdroj: | Birth Defects Research Part A: Clinical and Molecular Teratology. 67:985-988 |
| ISSN: | 1542-0752 |
| DOI: | 10.1002/bdra.10126 |
| Popis: | BACKGROUND The phenotypic expression of an additional chromosome 9 causes a very broad clinical spectrum of anomalies. The prognosis for infants with non-mosaic tetrasomy 9p is poor, and they usually die at a very early age. CASE In this article we present a new case of complete tetrasomy 9p in a newborn girl with multiple dysmorphologic features. Cytogenetic studies were carried out by CBG, GTG, and QFQ chromosome bandings, as well as by fluorescence in situ hybridization (FISH). The cytogenetic findings for the newborn girl showed an extra chromosome interpreted as an isochromosome 9p. The karyotype was characterized as 47,XX,+mar.ish i(9)(p10)(wcp9+). The parental chromosomes were normal. CONCLUSIONS The karyotype and clinical features of the newborn girl (e.g., typical craniofacial dysmorphism, severe skeletal anomalies, and visceral and genito-urinary malformations), compared with cases reported in the literature, give additional support to a clinical definition of this chromosomal syndrome. Birth Defects Research (Part A), 2003. © 2003 Wiley-Liss, Inc. |
| Databáze: | OpenAIRE |
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