New cytogenetic variant of Orbeli's syndrome (46,XY/45,XY,-D/46,XY,Dq+)

Oesophageal atresia in the South West of England.

“…Oesophageal atresia is a recognized but unusual feature of thalidomide embryopathy (Warkany, 1971). Oesophageal atresia is also known to be associated with trisomy 21 (Potts and Idriss, 1960;Holder et al, 1964;Wayson et al, 1965;Krishinger and Woolley, 1969) and trisomy 18 (Holman et al, 1963; Warkanyy, Passarge, and Smith, 1966;Rabinowitz et al, 1967;Grosfeld, Kontras, and Sommer, 1971;Gordon et al, 1974), and it has been found in a cytogenetic variant (46,XY/45,XY,D -/46,XY,Dq +) of Orbeli's syndrome (Lazjuk et al, 1973). Patients with the DiGeorge syndrome of agenesis of the thymus and hypoplasia of the parathyroids may have associated defects of the fourth aortic arch (right-sided aortic arch or an aberrant right subclavian artery) as well as oesophageal atresia (Freedom, Rosen, and Nadas, 1972).…”