Hypogammaglobulinaemia in Digeorge sequence

1989 ◽  
Vol 149 (2) ◽  
pp. 143-144 ◽  
Author(s):  
A. Etzioni ◽  
S. Pollack ◽  
M. Mayumi ◽  
H. Mikawa
Keyword(s):  
Digeorge Sequence

Clinical and molecular study of DiGeorge sequence

1994 ◽  
Vol 153 (11) ◽  
pp. 813-820
Author(s):  
A. Levy-Mozziconacci ◽  
F. Wernert ◽  
P. Scambler ◽  
F. Rouault ◽  
D. Metras ◽  
...  
Keyword(s):  
Molecular Study ◽  
Digeorge Sequence

Facio-Auriculo-Vertebral Sequence in Association with DiGeorge Sequence, Rokitansky Sequence, and Dandy-Walker Malformation: Case Report

2003 ◽  
Vol 6 (4) ◽  
pp. 355-360 ◽  
Author(s):  
Komala Pillay ◽  
Louise S. Matthews ◽  
Helen C. Wainwright
Keyword(s):  
Case Report ◽  
Renal Dysplasia ◽  
Type I ◽  
Female Fetus ◽  
Fetal Autopsy ◽  
Dandy Walker Malformation ◽  
First Case ◽  
Etiologic Heterogeneity ◽  
Digeorge Sequence ◽  
Walker Malformation

Extreme variability of expression is characteristic of the facio-auriculo-vertebral sequence. Sporadic and familial cases have been reported with obvious etiologic heterogeneity. Most reports in the literature are of clinical cases. The purpose of this paper is to present a fetal autopsy case report of the facio-auriculo-vertebral sequence in association with DiGeorge sequence, Rokitansky sequence, and Dandy-Walker malformation. A standard neonatal autopsy was performed on a macerated female fetus, gestational age 29 wk. External examination of the fetus revealed hypoplastic right face, low-set microtic right ear, and macrostomia. Internal examination showed hypoplastic thymus and lungs, a type I truncus arteriosus, and ventricular septal defect. Both kidneys showed evidence of pelvi-ureteric junction obstruction. The ovaries and fallopian tubes were present with an absent uterus and vagina (Rokitansky sequence). In addition, Dandy-Walker malformation was identified. Microscopically, a single hypoplastic parathyroid gland was noted and there was cystic renal dysplasia. We report the sixth case of the facio-auriculo-vertebral sequence in association with Rokitansky sequence and the first case of this sequence in association with Dandy-Walker malformation. In addition, features of DiGeorge sequence were present.

503 Analysis of CD4 subpopulations in patients with partial digeorge sequence

1991 ◽  
Vol 87 (1) ◽  
pp. 265
Author(s):  
L HARRISON ◽  
H ROSENBLATT ◽  
C HANSON ◽  
B BROWN ◽  
W SHEARER
Keyword(s):  
Digeorge Sequence

Velo-cardio-facial syndrome and DiGeorge sequence with meningomyelocele and deletions of the 22q11 region

1994 ◽  
Vol 52 (4) ◽  
pp. 445-449 ◽  
Author(s):  
Robert E. Nickel ◽  
De-Ann M. Pillers ◽  
Mark Merkens ◽  
R. Ellen Magenis ◽  
Deborah A. Driscoll ◽  
...  
Keyword(s):  
Digeorge Sequence ◽  
Velo Cardio Facial Syndrome ◽  
22Q11 Region

Placental Lesions in a Case of DiGeorge Sequence

2005 ◽  
Vol 21 (1) ◽  
pp. 1-7 ◽  
Author(s):  
E. Fulcheri ◽  
M. Gualco ◽  
F. Delfino ◽  
M.F. Pantarotto
Keyword(s):  
Digeorge Sequence

scholarly journals 1289 PROSPECTIVE CLINICAL AND CYTOGENETIC STUDY OF DiGEORGE SEQUENCE

1985 ◽  
Vol 19 (4) ◽  
pp. 325A-325A
Author(s):  
Frank Greenberg ◽  
David Ledbetter ◽  
John Kirkland ◽  
William Shearer ◽  
Howard Rosenblatt ◽  
...  
Keyword(s):  
Cytogenetic Study ◽  
Digeorge Sequence

Successful cord blood transplantation for a CHARGE syndrome with CHD7 mutation showing DiGeorge sequence including hypoparathyroidism

2010 ◽  
Vol 169 (7) ◽  
pp. 839-844 ◽  
Author(s):  
Hirosuke Inoue ◽  
Hidetoshi Takada ◽  
Takeshi Kusuda ◽  
Takako Goto ◽  
Masayuki Ochiai ◽  
...  
Keyword(s):  
Cord Blood ◽  
Cord Blood Transplantation ◽  
Charge Syndrome ◽  
Blood Transplantation ◽  
Digeorge Sequence ◽  
A Charge ◽  
Chd7 Mutation

Clinical and molecular study of DiGeorge sequence

1994 ◽  
Vol 153 (11) ◽  
pp. 813-820 ◽  
Author(s):  
A. Levy-Mozziconacci ◽  
F. Wernert ◽  
P. Scambler ◽  
F. Rouault ◽  
D. Metras ◽  
...  
Keyword(s):  
Molecular Study ◽  
Digeorge Sequence
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