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1.
Am J Med Genet A ; 149A(6): 1302-7, 2009 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-19449429

RESUMEN

We report on a 4-year-old girl who presented with microcephaly, multiple minor anomalies of face and limbs, congenital heart defect, hypotonia, neuropsychomotor delay, deafness and seizures. A GTG-banded karyotype identified an additional fragment of unknown origin on the terminal region of 4p. Parental karyotypes were normal. FISH analysis using a whole chromosome paint probe for chromosome 4 and subtelomere probes showed a signal on the entire add (4) chromosome and loss of the 4p subtelomere region, respectively. Additional analysis using microsatellite markers for chromosome 4 and whole-genome array comparative genomic hybridization (array-CGH) identified a duplication of the region 4p13 --> 4p16.3. Her karyotype was thus interpreted as an inverted duplication with terminal deletion of 4p: 46,XX,der(4)(:p13 --> p16.3::p16.3 --> qter). The clinical features of our patient differed from those typically observed in Wolf-Hirschhorn syndrome and were more compatible with duplication 4(p14 --> p16.3), with preservation of the WHS critical region.


Asunto(s)
Inversión Cromosómica , Cromosomas Humanos Par 4 , Eliminación de Gen , Duplicación de Gen , Síndrome de Wolf-Hirschhorn , Anomalías Múltiples/genética , Preescolar , Pintura Cromosómica/métodos , Hibridación Genómica Comparativa/métodos , ADN/genética , Femenino , Marcadores Genéticos , Humanos , Hibridación Fluorescente in Situ , Cariotipificación , Repeticiones de Microsatélite , Mapeo Físico de Cromosoma , Síndrome
2.
Am J Med Genet A ; 143A(12): 1366-70, 2007 Jun 15.
Artículo en Inglés | MEDLINE | ID: mdl-17506105

RESUMEN

We report the second case of a child with trisomy of the entire short arm of chromosome 17 secondary to a de novo duplication. Trisomy 17p in this patient resulted from a duplication, localized to the distal region of the long arm of the same chromosome, an abnormality not previously described. This cytogenetic abnormality was confirmed using whole chromosome paint, subtelomeric and Smith-Magenis probes by fluorescence in situ hybridization (FISH) analysis. The child presented with phenotypic features previously described in trisomy 17p, including some specific facial dysmorphia, microcephaly, growth retardation, hypotonia, short webbed neck, congenital heart defect, minor abnormalities of the hands, agenesis of the corpus callosum and abnormalities of the iris. Iris alterations and defects involving the left side of heart and the aorta also may represent truly clinical hallmarks of this cytogenetic abnormality. In conclusion, this cytogenetic anomaly seems to represent a severe malformation entity with a poor prognosis and a recognizable clinical pattern that justifies the use of the term "17p trisomy syndrome" suggested previously by other authors.


Asunto(s)
Anomalías Múltiples/genética , Cromosomas Humanos Par 17/genética , Fenotipo , Trisomía/genética , Anomalías Múltiples/patología , Análisis Citogenético , Resultado Fatal , Femenino , Humanos , Lactante
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