literature searches of double trisomy citations are inadequate

� 2006 Wiley-Liss, Inc. American Journal of Medical Genetics Part A 140A:1126 (2006)

Correspondence

Literature Searches of Double TrisomyCitations Are Inadequate

Digamber Borgaonkar*Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, Maryland

Received 14 January 2005; Accepted 8 February 2006

How to cite this article: Borgaonkar D. 2006. Literature searches of double trisomy citationsare inadequate. Am J Med Genet Part A 140A:1126.

To the Editor:

Two recent authors, Li et al. [2004] and Rossino andNucaro [2005], have reported their patients withdouble trisomies along with comments such as‘‘From a careful review of the literature . . . ’’. In thesedays of instant availability of literature information, itis distressing to note that such statements are made.These authors fail to include in their literature reviewa similar case, 48,XXY,þ13 published in ClinicalGenetics [Malhes et al., 1977] and cited in my publiclyavailable Chromosomal Variation in Man onlinedatabase (www.wiley.com/borgaonkar).

ELECTRONIC DATA ACCESS

* The URL for database in this article is: http://www.wiley.com/borgaonkar

REFERENCES

Li S, Hassed S, Mulvihill JJ, Nair AK, Hopcus DJ. 2004. Doubletrisomy. Am J Med Genet Part A 124A:96–98.

Malhes JB,MooreCM,Gershank JJ. 1977.A case of double trisomyin a liveborn infant: 48, XXY, ‘‘13. Clin Genet 11:147–150.

Rossino R, Nucaro AL. 2005. Prenatal diagnosis of a doubletrisomy 48, XXY, þ13. Am J Med Genet Part A 132A:342.

Editor’s NoteIn the following correspondence Dr. Borgaonkar

points out that two previously published papers inthe Journal missed a key citation on double trisomyin their references. When contacted, both corres-ponding authors of these papers, Li and Nucaro,responded to the Editorial office with regrets thatthey had left off this citation in their respectivearticles.

Borgaonkar underscores an important theme inthis correspondence: the expectation for compre-hensive inclusion of all reported cases in papers thatclaim to summarize the literature on a condition.Since registries of patients with rare diseases are notalways available, the scientific literature oftenoperates as the database for such patients. This isespecially true for individuals with chromosomedisorders. Notwithstanding the fact that this

approach, that is, the literature as the patient registry,may not be the ideal strategy for collection, storageand retrieval of patient-related data (see BieseckerLB. 2004. Endangered species. Am J Med Genet128A:420–430), given the lack of needed resources,the literature functions as the phenotypic datarepository in many rare disorders (and certainly onesof interest to the Journal—see AJMG Mission State-ment on the Journal web page). Dr. Borgaonkar’sonline catalogue (URL provided below) is a valuableresource for initiating, completing and verifyingsearches of reports of human chromosome anoma-lies and can be utilized by authors prior to submis-sion of papers.

John C. CareyEditor

*Correspondence to: Digamber Borgaonkar, Ph.D., Laboratory ofNeurogenetics, NIA/NIH, Bethesda, MD 20892.E-mail: borgaonk@mail.nih.gov

DOI 10.1002/ajmg.a.31206