22q11.2 deletion syndrome historical perspective
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ayushi Jain, M.B.B.S.
Overview
Historical Perspective
Discovery
DGS characteristics were first described in 1828 but adequately reported later in 1965 by Dr. Angelo DiGeorge, as a clinical trial that included immunodeficiency, hypoparathyroidism, and congenital heart disease.[1]
- The association between thymic aplasia and DiGeorge syndrome was first noted by Harrington [2] in 1829 and later in association with congenital hypoparathyroidism by Lobdell[3] in 1959.
- Although by 1979, DiGeorge had evaluated 29 patients, the next important publication on DGS was that of Conley et al[4] on the delineation of the spectrum of DGS. The association of DGS with CHARGE association and of DGS and holoprosencephaly/arhinencephaly were both noted in Conley's series.
- In 1979, Conley et al[4] pointed out the association of DGS with conotruncal cardiac defects.
- From the standpoint of pathogenesis and aetiology, Lammer and Opitz[5] wrote a review of the various mechanisms in 1986. Aetiologically, DGA can occur because of various chromosome abnormalities (discussed later), mendelian disorders (including velocardiofacial syndrome (VCFS) and Zellweger syndrome), teratogenic exposure (alcohol, maternal diabetes, retinoids), and other associations (CHARGE associations and with Kallmann syndrome or with holoprosencephaly) (the latter two may be a spectrum of the same defect).
Landmark Events in the Development of Treatment Strategies
Impact on Cultural History
Famous Cases
The following are a few famous cases of [disease name]:
References
- ↑ McDonald-McGinn DM, Sullivan KE, Marino B, Philip N, Swillen A, Vorstman JA, Zackai EH, Emanuel BS, Vermeesch JR, Morrow BE, Scambler PJ, Bassett AS. 22q11.2 deletion syndrome. Nat Rev Dis Primers. 2015 Nov 19;1:15071.
- ↑ Harrington LH. Absence of the thymus gland. Lond Med Gaz 1929;3:314.
- ↑ Lobdell DH. Congenital absence of the parathyroid glands. Arch Pathol 1959;67:412-18.
- ↑ 4.0 4.1 Conley ME, Beckwith JB, Mancer JFK, Tenckhoff L. The spectrum of the DiGeorge syndrome. J7 Pediatr 1979;94:883-90.
- ↑ Lammer EJ, Opitz JM. The DiGeorge anomaly as a developmental field defect. Am J7 Med Genet Suppl 1986;2:1 13-27.