Chromosome 13 ring syndrome

Introduction: Chromosome 13 ring syndrome

Description of Chromosome 13 ring syndrome

Chromosome 13 ring syndrome (medical condition): A rare chromosomal disorder where genetic material from one or both...more »

Chromosome 13 ring syndrome: A syndrome in which parts of both ends of chromosome 13 have been lost (deletion) and the two broken ends reunited to form a ring-shaped figure. Phenotypic expression varies according to breakpoint locations and lengths of deleted segments. Some patients exhibit only minor dysmorphic features but most are severely affected by a wide range of abnormalities. The clinical picture in many cases is similar to that seen in terminal deletions of the long arm of chromosome 13 and includes retinoblastoma, mental and growth retardation, brain malformations, heart defects, distal limb deformities, and digestive, urogenital, and other abnormalities, and some cases of ring chromosome 13 share many common characteristics with the Garcia-Lurie syndrome, including aprosencephaly, atelencephaly, microcephaly, craniofacial dysproportion, urogenital anomalies, adrenal hypoplasia, digital abnormalities, and severe retardation.
Source: Diseases Database

Chromosome 13 ring syndrome: Related Topics

These medical condition or symptom topics may be relevant to medical information for Chromosome 13 ring syndrome:

Chromosome 13 ring syndrome as a Disease

Chromosome 13 ring syndrome (medical condition): See Chromosome 13 ring syndrome (disease information).
  »Introduction: Chromosome 13 ring syndrome
  »Symptoms of Chromosome 13 ring syndrome
  »Treatments for Chromosome 13 ring syndrome

Chromosome 13 ring syndrome: Related Diseases

Chromosome 13 ring syndrome: Chromosome 13 ring syndrome is listed as a type of (or associated with) the following medical conditions in our database: