De novo direct duplication 7p (p11.2-->pter) in an Arab child with MCA/MR syndrome: trisomy 7p a delineated syndrome?

Redha, M A; Krishna Murthy, D S; al-Awadi, S A; al-Sulaiman, I S; Sabry, M A; el-Bahey, S A; Farag, T I

Redha, M A; Krishna Murthy, D S; al-Awadi, S A; al-Sulaiman, I S; Sabry, M A; el-Bahey, S A; Farag, T I.

Afiliación

Redha MA; Medical Genetics Centre, Maternity Hospital, Kuwait.

Ann Genet ; 39(1): 5-9, 1996.

Article en En | MEDLINE | ID: mdl-9297445

RESUMEN

A 3-year-6-month old Lebanese female child with multiple congenital anomalies including, facial dysmorphism, prominent low set ears, micrognathia, anti-mongoloid palpebral fissures and psychomotor retardation was investigated. Her karyotype showed de novo 46, XX, dir dup (7)(p11.2-->pter). The phenotypic manifestations in dir dup (7p) cases are briefly reviewed. Our observations in combination with other similar cases suggest that 7p trisomy due to dir dup (7p) can be regarded as a defined chromosome syndrome.

Asunto(s)

Anomalías Múltiples/genética; Árabes; Cromosomas Humanos Par 7; Familia de Multigenes; Trisomía; Preescolar; Femenino; Humanos; Cariotipificación; Fenotipo; Síndrome

Buscar en Google

Añadir a Mi BVS

Imprimir

XML

PubMed Links

Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Trisomía / Anomalías Múltiples / Cromosomas Humanos Par 7 / Familia de Multigenes / Árabes Límite: Child, preschool / Female / Humans Idioma: En Revista: Ann Genet Año: 1996 Tipo del documento: Article País de afiliación: Kuwait Pais de publicación: Países Bajos

Buscar en Google

Añadir a Mi BVS

Imprimir

XML

PubMed Links