[Trisomy for the distal part of the short arm of the number 3 chromosome in 3 siblings. First example of chromosomal insertion: INS(7;3)(q 31;p 21 p 26)].
D000015:Abnormalities, Multiple; D001344:Autopsy; D002675:Child, Preschool; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002900:Chromosomes, Human, 1-3; D002972:Cleft Palate; D003394:Craniofacial Dysostosis; D003878:Dermatoglyphics; D012734:Disorders of Sex Development; D005260:Female; D006330:Heart Defects, Congenital; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability; D008265:Macrostomia; D008297:Male; D014314:Trisomy
Trisomie pour la partie distale du bras court du chromosome 3 chez trois germains. Premier exemple d'insertion chromosomique: INS (7;3) (q 31; p 21 p 26.