scholarly journals A 5-year-old white girl with Prader-Willi syndrome and a submicroscopic deletion of chromosome 15q11q13

Author(s):  
Merlin G. Butler ◽  
Susan L. Christian ◽  
Takeo Kubota ◽  
David H. Ledbetter
1996 ◽  
Vol 71 (4) ◽  
pp. 187-212 ◽  
Author(s):  
Travis Thompson ◽  
Merlin Butler ◽  
William MacLean ◽  
Beth Joseph

2014 ◽  
Vol 122 (03) ◽  
Author(s):  
E Bogova ◽  
N Volevodz ◽  
V Peterkova

1960 ◽  
Vol 04 (03) ◽  
pp. 369-375 ◽  
Author(s):  
E. H Braun ◽  
David B. Stollar

SummaryA case of haemophilia in a young white girl is described. There was a history of bleeding from birth. The thromboplastin generation test was grossly abnormal and A. H. G. levels were below 1%. Bleeding time and capillary morphology was within normal limits. Dental extraction after transfusion caused almost uncontrollable haemorrhage.A complete family history was obtained for four generations. There was no case of a “bleeder” amongst these.The girl’s apparent sex was confirmed by sex chromatin studies.


2017 ◽  
Author(s):  
Georgia Irene Neophytou ◽  
Mikaela Frixou ◽  
M Guftar Shaikh ◽  
Andreas Kyriakou

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