Untreated growth hormone deficiency with extremely short stature, bone dysplasia, cleft lip–palate and severe mental retardation in a 26-year-old man with a de novo unbalanced translocation t(1;12)(q24;q24)

Author:

Callier P.,Faivre L.,Marle N.,Thauvin-Robinet C.,Mosca A.L.,Masurel-Paulet A.,Borgnon J.,Falcon-Eicher S.,Danino A.,Malka G.,Le Merrer M.,Huet F.,Mugneret F.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference31 articles.

1. De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints;Warburton;Am. J. Hum. Genet.,1991

2. Systematic characterisation of disease associated balanced chromosome rearrangements by FISH: cytogenetically and genetically anchored YACs identify microdeletions and candidate regions for mental retardation genes;Wirth;J. Med. Genet.,1999

3. Disease associated balanced chromosome rearrangements: a resource for large scale genotype–phenotype delineation in man;Bugge;J. Med. Genet.,2000

4. Growth hormone and bone;Ohlsson;Endocr. Rev.,1998

5. From density to structure: growing up and growing old on the surfaces of bone;Seeman;J. Bone Miner. Res.,1997

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