Autism in two females with duplications involving Xp11.22–p11.23
✍ Scribed by ANNA C EDENS; MICHAEL J LYONS; REYNA M DURON; BARBARA R DUPONT; KENTON R HOLDEN
- Book ID
- 111131703
- Publisher
- John Wiley and Sons
- Year
- 2011
- Tongue
- English
- Weight
- 95 KB
- Volume
- 53
- Category
- Article
- ISSN
- 0012-1622
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## Abstract Partial duplications of the short arm of the X chromosome are relatively rare and have been described in males and females. We describe a $4{\raise0.5ex\hbox{$\scriptstyle {10}$}\kern-0.1em/\kern-0.15em\lower0.25ex\hbox{$\scriptstyle {12}$}}$‐year‐old girl presenting with developmental
## Abstract We describe a patient with striking generalized symmetrical enchondromatosis of the tubular bones and a de novo duplication of chromosome 12p11.23 to 12p11.22. The __PTHLH__ gene within this region encodes a ligand for PTHR1: mutations in the gene encoding this receptor are associated w