Letter to the Editor

Pulmonary Agenesis: Importance of DetailedCytogenetic Studies

To the Editor:

We read with great interest the paper by Cunning-ham and Mann entitled ‘‘Pulmonary Agenesis: A Pre-dictor of Ipsilateral Malformations’’ [Cunningham andMann, 1997]. This excellent literature review included269 cases published since 1937, with special emphasison 71 with associated malformations other than cardio-vascular and axial skeletal. Chromosome studies werecarried out in 5 of their own 8 cases, with normal re-sults. Their main interest in this study was an associa-tion between pulmonary agenesis and ipsilateral in-volvement of the face and/or radial ray.

We published a case of left pulmonary agenesis in anewborn female infant who died at age 35 days [Say etal., 1980]. The infant additionally displayed blepharo-phimosis, apparently low-set posteriorly angulatedears, a beaked nose, hyperextensible elongated fingers,and an ectopic anus. Autopsy showed that the left lung,left stem bronchus, and the bronchial as well as thepulmonary arteries were absent. The heart showed acomplete atrioventricular canal. Interestingly, thechromosome studies indicated duplication of the p armof chromosome 2 [46,XX,dup(2)(p21p24)]. It is of fur-ther interest that another case with unilateral lungagenesis has been published since then, with duplica-tion of the upper arm of chromosome 2 [Schober et al.,1983], although the patient also had partial trisomy 21(pter–q21).

Cunningham and Mann (personal communication)were kind enough to reanalyze for us their data with

regard to cytogenetic findings. They reported that outof the 269 cases mentioned above, 101 of them werepublished before 1960. Among the remaining 168cases, there were only 5 patients who had cytogeneticstudies, all with normal results. Although 10 caseswith lung agenesis studied cytogenetically appeared tohave normal karyotypes, the existence of 2 cases withduplication of chromosome 2 in such a rare anomaly isindeed intriguing. We suggest that patients with lungagenesis be studied for the presence of a duplication ofchromosome 2p. A search for genes for lung develop-ment in this area may also be fruitful.

REFERENCES

Cunningham ML, Mann N (1997): Pulmonary agenesis: A predictor of ip-silateral malformations. Am J Med Genet 70:391–398.

Say B, Carpenter NJ, Giacoia G, Jegathesan S (1980): Agenesis of the lungassociated with a chromosome abnormality (46,XX,2p+). J Med Genet17:477–478.

Schober PH, Muller WD, Behmel A, Fritsch G, Beitzke A (1983): Lunge-nagenesie bei partieller Trisomie 2p and 21q. Klin Padiatr 195:291–293.

Burhan Say*N.J. CarpenterH.A. Chapman Institute of Medical GeneticsTulsa, Oklahoma

*Correspondence to: Burhan Say, M.D., H.A. Chapman Insti-tute of Medical Genetics, 5300 E. Skelly Drive, Tulsa, OK 74135.

Received 21 September 1997; Accepted 17 November 1997

American Journal of Medical Genetics 76:446 (1998)

© 1998 Wiley-Liss, Inc.