A 9.3 Mb microdeletion of 3q27.3q29 associated with psychomotor and growth delay, tricuspid valve dysplasia and bifid thumb.
Eur J Med Genet
; 52(2-3): 131-3, 2009.
Article
en En
| MEDLINE
| ID: mdl-19324102
We describe a de novo 3q27.3q29 deletion in a 2.5-year-old female patient with developmental and growth delay, dysmorphic facial features, mild tricuspid valve dysplasia, bifid thumb, clinodactyly of the 2nd toe bilaterally and scoliosis. The deletion overlaps for about 1Mb with the 1.6Mb region commonly deleted in patients with 3q29 microdeletion syndrome. The phenotype of the two syndromes is not completely overlapping, though the most important clinical features, such as mental retardation and microcephaly, occur in both. This suggests that the deletion in our patient causes a distinct clinical phenotype, not described previously. In the deleted region there are 47 annotated genes. Among them, seven are of particular interest for correlation with clinical features of the patient. Two genes, OPA1 and CCDC50, responsible for autosomal dominant optic atrophy and deafness, respectively, may be important for the correct follow-up of the patient.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Cromosomas Humanos Par 3
/
Deleción Cromosómica
/
Trastornos de los Cromosomas
Tipo de estudio:
Risk_factors_studies
Límite:
Child, preschool
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Female
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Humans
Idioma:
En
Revista:
Eur J Med Genet
Asunto de la revista:
GENETICA MEDICA
Año:
2009
Tipo del documento:
Article
País de afiliación:
Italia
Pais de publicación:
Países Bajos