PT  - JOURNAL ARTICLE
AU  - V J Buckle
AU  - D R Higgs
AU  - A O Wilkie
AU  - M Super
AU  - D J Weatherall
TI  - Localisation of human alpha globin to 16p13.3----pter.
AID  - 10.1136/jmg.25.12.847
DP  - 1988 Dec 01
TA  - Journal of Medical Genetics
PG  - 847--849
VI  - 25
IP  - 12
4099  - http://jmg.bmj.com/content/25/12/847.short
4100  - http://jmg.bmj.com/content/25/12/847.full
SO  - J Med Genet1988 Dec 01; 25
AB  - A female child with alpha thalassaemia trait, moderate mental retardation, and dysmorphic features has inherited an abnormal chromosome 16 complement as a result of the unbalanced segregation of a maternal balanced translocation. Cytogenetic analysis indicates that the patient is monosomic for 16p13.3----pter and trisomic for 10q26.13----qter. DNA studies show that the patient has not inherited either maternal alpha globin allele. This accounts for the alpha thalassaemia trait in the child and places the human alpha globin complex in band 16p13.3----pter.