A Case of Partial Trisomy of 3p (Trisomy of 3p23)
Journal of the Korean Pediatric Society
;
: 1006-1010, 1994.
Artículo
en Coreano
| WPRIM
| ID: wpr-88798
ABSTRACT
Partial Trisomy of 3p (Trisomy of 3p2, dup (3) (p23-->pter)) is a characteristic syndrome of chromosomal duplication of distal part of 3p, but breakpoints seem to vary in location. This syndrome shows multiple congenital anomalies with severe mental retardation, characteristic craniofacial change and absence of other gross external abnormalities. The craniofacial dysmorphism includes frontal bossing and temporal indentation, square face, marked hypertelorism, thick and short nose, full lips and a large mouth with downturned corners. Congenital heart defect, most frequently ASD and VSD, are found in most patients. In the majority of patients, the 3p2 duplication is the unbalanced product of a parental autosomal translocation involving 3p2 and another chromosome. We report a case of female baby who has facial dysmorphism, ASD and hyptonia and was found to have 3p2 duplidation (46XX-9, +der(9)t (39)(p23p24)) by chromosomal analysis. Also we found her father was a carrier of blanced translocation of 3p2 and chromosome 9p (46XY, t(39)(p23p24)).
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Padres
/
Trisomía
/
Nariz
/
Padre
/
Duplicación Cromosómica
/
Cardiopatías Congénitas
/
Hipertelorismo
/
Labio
/
Discapacidad Intelectual
/
Boca
Límite:
Femenino
/
Humanos
Idioma:
Coreano
Revista:
Journal of the Korean Pediatric Society
Año:
1994
Tipo del documento:
Artículo
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