A Case of Partial Trisomy 20p Resulting from Meiotic Recombination of a Maternal Pericentric Inversion
Annals of Laboratory Medicine
;
: 91-94, 2012.
Artículo
en Inglés
| WPRIM
| ID: wpr-43979
ABSTRACT
Here we report the cytogenetic and clinical manifestations observed in a patient with a rec(20)dup(20p)inv(20)(p11.2q13.3)mat. The patient was a full-term newborn girl with asymmetric intrauterine growth restriction and multiple congenital malformations, including a ventricular septal defect, pulmonary atresia, ambiguous genitalia, clinodactyly, and sacral dimpling. To our knowledge, this is the 4th report in the world and the 1st one in Korea of a patient with rec(20)dup(20p).
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Fenotipo
/
Recombinación Genética
/
Trisomía
/
Anomalías Múltiples
/
Cromosomas Humanos Par 20
/
Inversión Cromosómica
Límite:
Adulto
/
Femenino
/
Humanos
/
Recién Nacido
Idioma:
Inglés
Revista:
Annals of Laboratory Medicine
Año:
2012
Tipo del documento:
Artículo
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