Interstitial deletions 4q21.1q25 and 4q25q27: phenotypic variability and relation to Rieger anomaly.

Kulharya, A S; Maberry, M; Kukolich, M K; Day, D W; Schneider, N R; Wilson, G N; Tonk, V

Kulharya, A S; Maberry, M; Kukolich, M K; Day, D W; Schneider, N R; Wilson, G N; Tonk, V.

Afiliación

Kulharya AS; Department of Pathology, University of Texas Southwestern Medical Center, Dallas, USA.

Am J Med Genet ; 55(2): 165-70, 1995 Jan 16.

Article en En | MEDLINE | ID: mdl-7717415

RESUMEN

We describe clinical and chromosomal findings in two patients with del(4q). Patient 1, with interstitial deletion (4)(q21.1q25), had craniofacial and skeletal anomalies and died at 8 months of hydrocephalus. Patient 2, with interstitial deletion (4)(q25q27), had craniofacial and skeletal anomalies with congenital hypotonia and developmental delay. These patients shared certain manifestations with other del(4q) patients but did not have Rieger anomaly. Clinical variability among patients with interstitial deletions of 4q may be related to variable expression, variable deletion, or imprinting of genes within the 4q region.

Asunto(s)

Anomalías Múltiples/genética; Deleción Cromosómica; Cromosomas Humanos Par 4; Huesos/anomalías; Huesos Faciales/anomalías; Femenino; Humanos; Lactante; Masculino; Fenotipo; Síndrome

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Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Anomalías Múltiples / Cromosomas Humanos Par 4 / Deleción Cromosómica Límite: Female / Humans / Infant / Male Idioma: En Revista: Am J Med Genet Año: 1995 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos

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