Published online by Cambridge University Press: 01 August 2014
The authors report three cases of enlargement in length of the short arm of a G chromosome: in a mother and her trisomy 21 son, and in a child with congenital glaucoma and systemic malformations. They discuss the nature of this odd chromosome. The latter can represent altered chromosomal behavior of anomalous coiling, but it is quite possible that it represents a translocation. The authors observed another case of congenital glaucoma with short arm enlargement in a G chromosome.