A subterminal deletion of the long arm of chromosome 10: a clinical report and review.
Am J Med Genet A
; 140(4): 402-9, 2006 Feb 15.
Article
en En
| MEDLINE
| ID: mdl-16419133
ABSTRACT
We report on a girl with mental retardation, dysmorphic features, and behavioral problems. A small terminal deletion of the long arm of chromosome 10 was detected by subtelomeric fluorescence in situ hybridization (FISH) studies in all analyzed metaphases. The deletion was shown to be a de novo terminal deletion of approximately 6.1 Mb, with the deletion breakpoint localized at band 10q26.2, between BAC probes RP11-498K22 and RP11-42K2. A subterminal 10q deletion as found in the present patient has, to our knowledge, only been reported in 15 patients (including 8 familial cases). We review the clinical and behavioral phenotype of these patients with "pure" subterminal 10q deletion.
Buscar en Google
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Cromosomas Humanos Par 10
/
Deleción Cromosómica
/
Trastornos del Crecimiento
/
Discapacidad Intelectual
Límite:
Adult
/
Child, preschool
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Am J Med Genet A
Asunto de la revista:
GENETICA MEDICA
Año:
2006
Tipo del documento:
Article
País de afiliación:
Bélgica