Large interstitial deletion of chromosome 13q and severe short stature: clinical report and review of the literature.
We report a 16 year old African American female with an interstitial deletion of chromosome 13 comprising approximately 40% of the long arm of this chromosome [karyotype 46,XX, del(13)(q14.12q31.2)]. We believe that this case is interesting because of the large size of the chromosome deletion, the severe growth retardation seen in the proband and her prolonged survival.
Slavotinek
Anne M
AM
Lacbawan
Felicitas
F
D000293:Adolescent; D001827:Body Height / Q000235:genetics*; D002869:Chromosome Aberrations; D002882:Chromosomes, Human, Pair 13; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*