De novo trisomy 16p11.2-qter: report of an infant.
Am J Med Genet
; 92(5): 308-10, 2000 Jun 19.
Article
em En
| MEDLINE
| ID: mdl-10861658
ABSTRACT
We report on a four-month-old girl with a de novo trisomy 16q [47,XX, +del(16)(p11.2).ish del(16)(p11.2)(wcp16+,D16Z2+,tel16q+, tel16p-)]. She had minor facial anomalies, limb anomalies, urogenital abnormalities, and severe cardiovascular defects. Autopsy confirmed left hypoplastic lung, total anomalous pulmonary venous drainage via coronary sinus, persistent left superior vena cava, patent ductus arteriosus, secundum atrial septal defect, bilateral hydronephrosis and hydroureters, uterus bicornis, and ovarian hypoplasia. Short tandem repeat polymorphism analysis indicated that the additional, structurally abnormal chromosome 16 was maternal in origin.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Trissomia
/
Cromossomos Humanos Par 16
Limite:
Female
/
Humans
/
Newborn
Idioma:
En
Revista:
Am J Med Genet
Ano de publicação:
2000
Tipo de documento:
Article
País de afiliação:
Japão