Partial trisomy 4q: two cases resulting from a familial translocation t(4;18)(q27;p11).
Partial trisomy of the long arm of chromosome 4 was observed in two related patients, a child aged 2 years and a woman aged 42. Cytogenetic investigation revealed that their chromosome anomalies were due to segregation of a familial balanced translocation t(4;18)(q27;p11). Some clinical and cytogenetic considerations are noted.
D000328:Adult; D002675:Child, Preschool; D002902:Chromosomes, Human, 16-18; D002905:Chromosomes, Human, 4-5; D003394:Craniofacial Dysostosis / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D010641:Phenotype; D011596:Psychomotor Disorders / Q000235:genetics; D013577:Syndrome; D014178:Translocation, Genetic; D014314:Trisomy