Home > F. Pathology by regions > Limbs > Lower limbs > lower limb phocomelia
lower limb phocomelia
Wednesday 25 July 2007
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