Psychomotor retardation with a 1q42.11-q42.12 deletion.
Hereditas
; 154: 6, 2017.
Article
en En
| MEDLINE
| ID: mdl-28286461
ABSTRACT
A 1q42 deletion is a rare structure variation that commonly harbours various deletion breakpoints along with diversified phenotypes. In our study, we found a de novo 1q42 deletion in a boy who did not have a cleft palate or a congenital diaphragmatic hernia but presented with psychomotor retardation. A 1.9 Mb deletion located within 1q42.11-q42.12 was validated at the molecular cytogenetic level. This is the first report of a 1q42.11-q42.12 deletion in a patient with onlypsychomotor retardation. The precise break points could facilitate the discovery of potential causative genes, such as LBR, EPHX1, etc. The correlation between the psychomotor retardation and the underlying genetic factors could not only shed light on the diagnosis of psychomotor retardation at the genetic level but also provide potential therapeutic targets.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Cromosomas Humanos Par 1
/
Discapacidades del Desarrollo
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Deleción Cromosómica
Límite:
Child, preschool
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Humans
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Male
Idioma:
En
Revista:
Hereditas
Año:
2017
Tipo del documento:
Article