PEDIATRICS Vol. 50 No. 6 December 1972, pp. 928-930
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Translocation Trisomy D Syndrome 46, XX, D-, t(Dq Dq)+: Report of a Case With a Note on the Cold-Instability of Hb Gower-2

N. C. Bethlenfalvay M.C.1, Jose M. Louro M.D.2, and Harry A. Greer Jr. MC3

1 Department of Medicine, Brooke General Hospital and Brooke Army Medical Center, Fort Sam Houston, Texas
2 Department of Pediatrics, University of Texas Medical School, at San Antonio, San Antonio, Texas
3 Department of Pediatrics, Brooke General Hospital and Brooke Army Medical Center, Fort Sam Houston, Texas

The existence of two distinct embryonic hemoglobins (Hb Gower-1 and Hb Gower-2) in young fetuses up to 85 mm crown-rump length has been well established. Persistence of Hb Gower-2 to (and for a short period after) birth associated with the trisomy D1 syndrome has been well documented. With rare exceptions, however, electrophoretic documentation of this hemoprotein was not accomplished in the majority of subsequently reported cases. Marked instability of Hb Gower-2, especially on cold storage has received but one mention in the literature. The purpose of this paper is to report a case of D/D translocation trisomy in which the demonstration of Hb Gower-2 would not have been possible without this knowledge.




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Expression, purification, and characterization of human hemoglobins Gower-1 ({zeta}2{epsilon}2), Gower-2 ({alpha}2{epsilon}2), and Portland-2 ({zeta}2{beta}2) assembled in complex transgenic-knockout mice
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