Familial (11;21)(p13;q22)pat balanced reciprocal translocation in a female child with regression of milestones

A Radha Ramadevi; K Prabhakara; Usha Dutta

doi:10.1016/s0003-3995(02)01099-7

Familial (11;21)(p13;q22)pat balanced reciprocal translocation in a female child with regression of milestones

Ann Genet. 2002 Jan-Mar;45(1):13-5. doi: 10.1016/s0003-3995(02)01099-7.

Authors

A Radha Ramadevi¹, K Prabhakara, Usha Dutta

Affiliation

¹ Diagnostics Division, Center for DNA Fingerprinting & Diagnostics, ECIL Road, Nacharam, Hyderabad 500 076, India. radha@www.cdfd.org.in

PMID: 11934384
DOI: 10.1016/s0003-3995(02)01099-7

Abstract

The role of balanced translocations in the human morphogenesis is difficult to interpret. A balanced reciprocal translocation (BRT) was observed in a female child referred with a history of regression of milestones. The cytogenetic findings by GTG-banding and fluorescence in situ hybridization revealed a BRT involving chromosomes 11p and 21q, i.e. 46,XX, t(11;21)(p13;q22). The father was found to be a carrier of the same BRT. This is the first report of reciprocal translocation involving 11p and 21q. The possible reasons for the manifestation of clinical features in the proband due to inherited BRT are discussed.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Child, Preschool
Chromosomes, Human, Pair 11*
Chromosomes, Human, Pair 21*
Developmental Disabilities / genetics*
Female
Humans
In Situ Hybridization, Fluorescence
Karyotyping
Translocation, Genetic*