Artículo
Double Autosomal/Gonosomal Mosaic Trisomy 47,XXX/47,XX,+14 in a Newborn with Multiple Congenital Anomalies
Massara, Lucía S.; Delea, Marisol; Espeche, Lucía; Bruque, Carlos David
; Oliveri, Jaen Natalia; Brun, Paloma Laura; Furforo, Lilian; Dain, Liliana Beatriz
; Rozental, Sandra
Fecha de publicación:
11/2019
Editorial:
Karger
Revista:
Cytogenetic And Genome Research
ISSN:
1424-8581
Idioma:
Inglés
Tipo de recurso:
Artículo publicado
Clasificación temática:
Resumen
Chromosomal trisomies are the most frequent major chromosomal anomalies in humans and can be present in a mosaic or a non-mosaic constitution. We report the first case of a newborn girl presenting with multiple congenital anomalies and a double mosaic trisomy involving chromosome 14 and the X chromosome detected by array CGH. Karyotype analysis revealed a double mosaic with 2 independent abnormal cell lines and the absence of 46,XX and 48,XXX,+14 cell lineages. The patient showed most of the clinical characteristics of mosaic trisomy 14. Analysis of autosomal DNA markers in the proband's blood sample did not support the presence of chimerism. Further analysis of chromosome X DNA markers suggests that the extra X chromosome most probably arose as a consequence of nondisjunction in meiosis II in the maternal lineage.
Palabras clave:
ARRAY CGH
,
DOUBLE GONOSOMAL/AUTOSOMAL TRISOMY
,
MOSAIC TRISOMY 14
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Articulos(SEDE CENTRAL)
Articulos de SEDE CENTRAL
Articulos de SEDE CENTRAL
Citación
Massara, Lucía S.; Delea, Marisol; Espeche, Lucía; Bruque, Carlos David; Oliveri, Jaen Natalia; et al.; Double Autosomal/Gonosomal Mosaic Trisomy 47,XXX/47,XX,+14 in a Newborn with Multiple Congenital Anomalies; Karger; Cytogenetic And Genome Research; 159; 3; 11-2019; 137-142
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