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Home > F. Pathology by regions > Limbs > Lower limbs > lower limb phocomelia

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lower limb phocomelia

Etiology

- de novo balanced reciprocal t(2; 12)(p25.1;q24.1) (12002154)

Associations

- upper limb peromelia (12002154)

See also

- phocomelias

References

- Murray RS, Keeling JW, Ellis PM, FitzPatrick DR. Symmetrical upper limb peromelia and lower limb phocomelia associated with a de novo apparently balanced reciprocal translocation: 46,XX,t(2; 12)(p25.1;q24.1). Clin Dysmorphol. 2002 Apr;11(2):87-90. PMID: 12002154

Keywords