A girl with a ring chromosome of No. 13 (D group) is alive and active at 10 years of age. Patients with partial deletion of a D chromosome,1-22 including those with a ring D chromosome,1,2,4-7,10,13-15,17-19,22 present a variety of clinical findings; one infant had many anomalies and was stillborn,2 others are less affected. Several of these patients, whose deleted chromosome appears to be No. 13,13,14 have unusual patterns of inheritance of haptoglobin, suggesting that a haptoglobin locus might be on this chromosome. Since a comparison of our patient with others could lead to more understanding of the functions of the involved chromosome, her story is presented.
Report of a Case
This white girl, weighed 1,650 gm (3 lb 10 oz) at term following a normal pregnancy. The primigravida mother was 18 years old; the father was 20. Both parents and a paternal half-sister are apparently normal
Coffin GS, Wilson MG. Ring Chromosome D (13). Am J Dis Child. 1970;119(4):370-373. doi:10.1001/archpedi.1970.02100050372020