Dup(1q)(q42-->qter) syndrome: case report and review of literature.
Am J Med Genet
; 47(8): 1157-60, 1993 Dec 01.
Article
en En
| MEDLINE
| ID: mdl-7507296
ABSTRACT
We report on a patient with primordial growth retardation, mental retardation, and minor anomalies (triangular face, open sagittal suture, frontal bossing, telecanthus, upturned nose, micrognathia, and small mouth with downturned corners). The diagnosis of Russell-Silver syndrome (RSS) had been considered but was abandoned when cytogenetic evaluation showed a partial trisomy 1q or duplication 1q (46,XY,15, + der(15)t(1;15)(q42;qter). Data from another 5 reports of dup(1)(q42-->qter) do not allow delineation of a typical syndrome. However, individuals with dup(1q), del(15q), and Russell-Silver syndrome share common manifestations (i.e., low birth weight, growth retardation, triangular face, low set/abnormal ears, micrognathia, renal anomalies.
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Bases de datos:
MEDLINE
Asunto principal:
Anomalías Múltiples
/
Cromosomas Humanos Par 1
/
Familia de Multigenes
Límite:
Humans
/
Infant
/
Male
Idioma:
En
Revista:
Am J Med Genet
Año:
1993
Tipo del documento:
Article
País de afiliación:
Alemania