Partial short arm deletions of the X chromosome and spontaneous pubertal development in girls with short stature.
Five additional examples of partial deletion of the short arm of the X chromosome are reported. All of the patients had short stature. The presence of the other stigmata of Turner syndrome, including ovarian dysfunction, appeared to depend on the location of the deletion. Chromosomal analysis of girls with short stature (less than 140 cm), normal pubertal development, and regular menses may reveal that minor deletions of the short arm of the X chromosome are more frequent than has been previously reported.
D000293:Adolescent; D002648:Child; D002872:Chromosome Deletion; D004392:Dwarfism / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D006801:Humans; D008572:Menarche; D011627:Puberty; D012730:Sex Chromosomes; D014960:X Chromosome