1.
Br J Haematol
; 178(1): 152-153, 2017 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27102370
Assuntos
Síndrome de Down/genética , Reação Leucemoide/genética , Trissomia/diagnóstico , Trissomia/genética , Gêmeos Monozigóticos , Dissomia Uniparental/diagnóstico , Dissomia Uniparental/genética , Cromossomos Humanos Par 21/genética , Síndrome de Down/diagnóstico , Feminino , Humanos , Cariótipo , Reação Leucemoide/diagnóstico , Nascido Vivo , Mosaicismo , Fenótipo , Natimorto
2.
J Pediatr Hematol Oncol
; 38(6): e191-2, 2016 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27322716
RESUMO
A male preterm infant was born with dysmorphic features consistent with Rubinstein-Taybi syndrome (RTS). An undescended right testicle was noted on examination. At 5 months of age he developed a palpable right-sided abdominal mass and an elevated alpha-fetoprotein. Histology revealed a malignant germ cell neoplasm arising within the undescended testis. This is the first reported case of a germ cell tumor occurring in a pediatric patient with RTS. Urologic abnormalities occur in approximately 52% of RTS patients, of which cryptorchidism is the commonest. Given the frequency of undescended testes in this population, closer screening may be warranted.