1.
Pediatr Pol
; 70(9): 769-73, 1995 Sep.
Artigo
em Polonês
| MEDLINE
| ID: mdl-8657511
RESUMO
A newborn with multiple congenital malformations and a pattern of dysmorphic features (microcephaly, uneven skull surface, exophthalmos, periorbital oedema, clefting of primary and secondary palates, camptodactylia of hands and feet, patent arterial duct, thoracic and spinal malformations, ambiguous external genitals) is described. Partial trisomy of chromosome 16q due to maternal reciprocal translocation t(9;16)(p24;q13) was detected. The risk for the next pregnancy was estimated to be low (below 2.6%).
Assuntos
Anormalidades Múltiplas/genética , Cromossomos Humanos Par 16 , Translocação Genética , Trissomia , Adulto , Feminino , Humanos , Recém-Nascido , Cariotipagem , Masculino , Linhagem , Gravidez
2.
Pediatr Pol
; 51(7): 835-8, 1976.
Artigo
em Polonês
| MEDLINE
| ID: mdl-951121