A patient with unusual features and a 69.5 Mb duplication from a de novo extra der (9): a case report.

ABSTRACT: Partial trisomy 9 is a common autosomal trisomy, which is characterized by non-specific psychomotor delay, mental retardation and moderately abnormal characteristic facial features. Generally, partial trisomy 9 leads to variable phenotypes depending on the size and position of the duplicated region. However, a precise genotype/phenotype map has not been determined. The present study reports the case of a 3-year-old female with certain typical features of trisomy 9p syndrome, who presented with a number of the distinctive symptoms, as well as sensorineural hearing loss, which has not previously been associated with this trisomy. Karyotype, M‑FISH and OaCGH analysis were performed on the patient and her parents. The final karyotype was determined to be 47, XX, +mar.ish der (9) (wcp9+). arr c

SUBMITTER: Zhou YC 

PROVIDER: S-EPMC4438924 | biostudies-literature | 2015 Jul

REPOSITORIES: biostudies-literature