[Partial 14q trisomy. I. Partial 14q trisomy by maternal translocation t(10;14) (p15.2;q22)].
A balanced reciprocal translocation t(10;14)(p15.2;q22) is present in the mother and the maternal grand mother of two boys. One, with a normal phenotype, received the balanced translocation, the other, exhibiting congenital malformations, is trisomic for the proximal part of 14q.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D001763:Blepharoptosis / Q000235:genetics; D002901:Chromosomes, Human, 13-15; D002906:Chromosomes, Human, 6-12 and X; D003394:Craniofacial Dysostosis / Q000235:genetics; D003878:Dermatoglyphics; D005260:Female; D006130:Growth Disorders / Q000235:genetics; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D017880:Limb Deformities, Congenital; D008297:Male; D008831:Microcephaly / Q000235:genetics; D008850:Microphthalmos / Q000235:genetics; D010375:Pedigree; D014178:Translocation, Genetic; D014314:Trisomy
Trisome 14q partielle. I. Trisomie 14q partiella par translocation maternelle t(10;14) (p15.2;q22)