Inv dup del(4)(:p13-->p16.3::p16.3-->qter) in a girl without typical manifestations of Wolf-Hirschhorn syndrome.
Am J Med Genet A
; 149A(6): 1302-7, 2009 Jun.
Article
em En
| MEDLINE
| ID: mdl-19449429
ABSTRACT
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 --> p16.3p16.3 --> 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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Cromossomos Humanos Par 4
/
Deleção de Genes
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Duplicação Gênica
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Síndrome de Wolf-Hirschhorn
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Inversão Cromossômica
Tipo de estudo:
Prognostic_studies
Limite:
Child, preschool
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Female
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Humans
Idioma:
En
Ano de publicação:
2009
Tipo de documento:
Article