Home > F. Pathology by regions > Limbs > peromelia
peromelia
Wednesday 25 July 2007
Definition: Severe congenital malformations of limbs, including absence of hand or foot.
Etiology
chromosomal anomalies
- de novo balanced reciprocal t(2; 12)(p25.1;q24.1) (12002154)
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
