Human pathology

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12q subtelomere deletion

Synopsis

- mild mental retardation
- food-seeking behavior
- obesity
- abnormal hair whorl pattern
- brachydactyly
- mild clinodactyly
- short stature
- +/- mild dysmorphic facial features
- multicystic kidneys
- unilateral cryptorchidism

See also

- subtelomeric deletions

References

- Niyazov DM, Nawaz Z, Justice AN, Toriello HV, Martin CL, Adam MP. Genotype/phenotype correlations in two patients with 12q subtelomere deletions. Am J Med Genet A. 2007 Oct 15; PMID: 17937441