[Secondary trisomy 1 q due to a reciprocal maternal translocation].
The authors report a case of partial trisomy 1 q due to a maternal balanced translocation : t(1 ; 4) (q 32 : p 16). The evocative malformations of trisomy 1 q and monosomy 4 p are discussed and compared to seven others from the literature. Then the interest of the chromosomical prenatal diagnosis and the significance of familial genetic studies are showed.
D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D002900:Chromosomes, Human, 1-3; D002905:Chromosomes, Human, 4-5; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014178:Translocation, Genetic; D014314:Trisomy
Trisomie 1 q secondaire à une translocation réciproque maternelle.