Functional disomy of the Xq28 chromosome region.
Eur J Hum Genet
; 13(5): 579-85, 2005 May.
Article
en En
| MEDLINE
| ID: mdl-15741994
We report on two patients, a boy and a girl, with an additional Xq28 chromosome segment translocated onto the long arm of an autosome. The karyotypes were 46,XY,der(10)t(X;10)(q28;qter) and 46,XX,der(4)t(X;4)(q28;q34), respectively. In both cases, the de novo cryptic unbalanced X-autosome translocation resulted in a Xq28 chromosome functional disomy. To our knowledge, at least 17 patients with a distal Xq chromosome functional disomy have been described in the literature. This is the third report of a girl with an unbalanced translocation yielding such a disomy. When the clinical features of both patients are compared to those observed in patients reported in the literature, a distinct phenotype emerges including severe mental retardation, facial dysmorphic features with a wide face, a small mouth and a thin pointed nose, major axial hypotonia, severe feeding problems and proneness to infections. A clinically oriented FISH study using subtelomeric probes is necessary to detect such a cryptic rearrangement.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Translocación Genética
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Anomalías Múltiples
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Cromosomas Humanos Par 4
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Cromosomas Humanos Par 10
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Cromosomas Humanos X
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Aneuploidia
Límite:
Female
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Humans
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Infant
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Male
Idioma:
En
Revista:
Eur J Hum Genet
Asunto de la revista:
GENETICA MEDICA
Año:
2005
Tipo del documento:
Article
País de afiliación:
Francia
Pais de publicación:
Reino Unido