作者: Pierre L. Roubertoux , Michèle Carlier
DOI: 10.1002/AJMG.C.30280
关键词:
摘要: Trisomy 21 (TRS21), also referred to as Down syndrome, occurs once in every 800–1,000 live births. It is the consequence of an extra copy HSA21 that causes imbalanced gene dose effect. TRS21 first known genetic cause cognitive disability. The syndrome complex, and includes various cardiac, immune, bone disorders. Most these signs are highly variable expression but disability most constant characteristic persons with TRS21. syntenies exist between three mouse chromosomes (MMU10, MMU16, MMU17) offer opportunity for a genotype–phenotype correlation. We present here segmental trisomies available we discuss their contribution brain phenotypes © 2010 Wiley-Liss, Inc.