A case of partial trisomy 3p syndrome with rare clinical manifestations / 소아과
Korean Journal of Pediatrics
;
: 107-110, 2012.
Artículo
en Inglés
| WPRIM
| ID: wpr-143970
ABSTRACT
Partial trisomy 3p results from either unbalanced translocation or de novo duplication. Common clinical features consist of dysmorphic facial features, congenital heart defects, psychomotor and mental retardation, abnormal muscle tone, and hypoplastic genitalia. In this paper, we report a case of partial trisomy 3p with rare clinical manifestations. A full-term, female newborn was transferred to our clinic. She had cleft lip-plate, dysgenesis of the corpus callosum, patent ductus arteriosus, pulmonary hypertension, and severe right-sided hydronephrosis, associated with ureteropelvic junction obstruction. Cytogenetic investigation revealed partial trisomy 3p; 46,XX,der(4)t(3;4) (p21.1;p16). The karyotype of her father showed a balanced translocation, t(3;4)(p21.1;p16). Therefore, the size of duplication can be an important factor.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Trisomía
/
Cromosomas Humanos Par 3
/
Cuerpo Calloso
/
Citogenética
/
Conducto Arterioso Permeable
/
Padre
/
Agenesia del Cuerpo Calloso
/
Cariotipo
/
Genitales
/
Cardiopatías Congénitas
Límite:
Femenino
/
Humanos
/
Recién Nacido
Idioma:
Inglés
Revista:
Korean Journal of Pediatrics
Año:
2012
Tipo del documento:
Artículo
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