An unusual chromosome 22q11 deletion associated with an apparent complementary ring chromosome in a phenotypically normal woman

2011 ◽  
Vol 54 (3) ◽  
pp. 292-294 ◽  
Author(s):  
Jérôme Toutain ◽  
Laurence Taine ◽  
Fanny Morice-Picard ◽  
Houria Hallal ◽  
Zong-Qi Dai ◽  
...  
Keyword(s):  
Ring Chromosome ◽  
22Q11 Deletion ◽  
Normal Woman ◽  
Chromosome 22Q11 ◽  
Unusual Chromosome

scholarly journals Association of chromosome 22q11 deletion with isolated anomalies of aortic arch laterality and branching

2001 ◽  
Vol 37 (8) ◽  
pp. 2114-2119 ◽  
Author(s):  
Doff B McElhinney ◽  
Bernard J Clark ◽  
Paul M Weinberg ◽  
Maura L Kenton ◽  
Donna McDonald-McGinn ◽  
...  
Keyword(s):  
Aortic Arch ◽  
22Q11 Deletion ◽  
Chromosome 22Q11

scholarly journals Craniosynostosis and chromosome 22q11 deletion.

1998 ◽  
Vol 35 (4) ◽  
pp. 346-347 ◽  
Author(s):  
J C Dean ◽  
D C De Silva ◽  
W Reardon
Keyword(s):  
22Q11 Deletion ◽  
Chromosome 22Q11

scholarly journals Infertility in a man with oligoasthenozoospermia associated with mosaic chromosome 22q11 deletion

2018 ◽  
Vol 6 (6) ◽  
pp. 1249-1254
Author(s):  
Yanyan Liu ◽  
Hongmei Zhu ◽  
Xuan Zhang ◽  
Ting Hu ◽  
Zhu Zhang ◽  
...  
Keyword(s):  
22Q11 Deletion ◽  
Chromosome 22Q11

Schizophrenia and Hypocalcaemia: Variable Phenotype of Deletion at Chromosome 22q11

1999 ◽  
Vol 33 (5) ◽  
pp. 760-762 ◽  
Author(s):  
L. Y. Chow ◽  
Merce Garcia-Barcelo ◽  
Y. K. Wing ◽  
Mary M. Y. Waye
Keyword(s):  
Phenotypic Variability ◽  
In Situ Hybridisation ◽  
Psychotic Symptoms ◽  
22Q11 Deletion ◽  
Deletion 22Q11 ◽  
Chromosome 22Q11 ◽  
Wide Range ◽  
Variable Phenotype ◽  
Velo Cardio Facial Syndrome

Objective: The aim of this paper is to report the diagnosis of velo-cardio-facial syndrome (VCFS) in a patient presenting with schizophrenia and hypocalcaemia. Screening of deletion 22q11 in patients with schizophrenia is discussed. Clinical picture: We report a schizophrenic patient presenting with hypocalcaemia as the only feature of VCFS. Deletion 22q11 was confirmed by fluorescent in situ hybridisation (FISH). Treatment: The patient was treated with haloperidol 3 mg/day with resolution of psychotic symptoms. Outcome: The patient harboured some residual psychotic symptoms probably related to her irregular compliance. Conclusions: The wide range of phenotypic variability of VCFS makes screening of 22q11 deletion in schizophrenia difficult. It is proposed that screening of 22q11 deletion in schizophrenia should be selectively targeted only at patients with specific features of VCFS highly predictive of the presence of 22q11 deletion.

Chromosome 22q11 Deletion Complicated by Dissecting Pulmonary Arterial Aneurysm and Jejunal Atresia in an Infant

2000 ◽  
Vol 124 (6) ◽  
pp. 880-882
Author(s):  
Shoji Yamanaka ◽  
Yukichi Tanaka ◽  
Motoyoshi Kawataki ◽  
Rieko Ijiri ◽  
Kiyoshi Imaizumi ◽  
...  
Keyword(s):  
Digeorge Syndrome ◽  
Male Infant ◽  
Velocardiofacial Syndrome ◽  
Arterial Aneurysm ◽  
22Q11 Deletion ◽  
Jejunal Atresia ◽  
Chromosome 22Q11 ◽  
Apple Peel ◽  
Pulmonary Arterial ◽  
Arterial Aneurysms

Abstract We present an autopsy case of a 46-day-old male infant with chromosome 22q11 deletion, which is considered the primary cause of several diseases, including DiGeorge syndrome and velocardiofacial syndrome. The patient had 2 notable congenital abnormalities: multiple dissecting pulmonary arterial aneurysms distributed in both lungs and multiple jejunal atresia with apple-peel deformity. The former, a very rare pathologic condition especially in infancy, was found incidentally at autopsy and was the primary cause of death. To our knowledge, neither of these lesions has been reported previously in a patient with chromosome 22q11 deletion.

Anesthetic management of a child with chromosome 22q11 deletion syndrome

2006 ◽  
Vol 16 (4) ◽  
pp. 454-457 ◽  
Author(s):  
HIROE YOTSUI-TSUCHIMOCHI ◽  
KAZUO HIGA ◽  
MATSUKO MATSUNAGA ◽  
KEIICHI NITAHARA ◽  
SHINJIRO SHONO
Keyword(s):  
Anesthetic Management ◽  
Deletion Syndrome ◽  
22Q11 Deletion ◽  
22Q11 Deletion Syndrome ◽  
Chromosome 22Q11

scholarly journals Unambiguous molecular detections with multiple genetic approach for the complicated chromosome 22q11 deletion syndrome

2009 ◽  
Vol 10 (1) ◽  
Author(s):  
Chen Yang ◽  
Cheng-Hung Huang ◽  
Mei-Leng Cheong ◽  
Kun-Long Hung ◽  
Lung-Huang Lin ◽  
...  
Keyword(s):  
Deletion Syndrome ◽  
22Q11 Deletion ◽  
22Q11 Deletion Syndrome ◽  
Genetic Approach ◽  
Chromosome 22Q11

scholarly journals Chromosome 22q11 deletion presenting as the Potter sequence.

1997 ◽  
Vol 34 (5) ◽  
pp. 423-425 ◽  
Author(s):  
K Devriendt ◽  
P Moerman ◽  
D Van Schoubroeck ◽  
K Vandenberghe ◽  
J P Fryns
Keyword(s):  
22Q11 Deletion ◽  
Potter Sequence ◽  
Chromosome 22Q11

Altered functioning of the cingulate gyrus in two cases of chromosome 22q11 deletion syndrome

2004 ◽  
Vol 132 (3) ◽  
pp. 273-278 ◽  
Author(s):  
Andreas Reif ◽  
Andreas J. Fallgatter ◽  
Ann-Christine Ehlis ◽  
Klaus-Peter Lesch
Keyword(s):  
Deletion Syndrome ◽  
22Q11 Deletion ◽  
Cingulate Gyrus ◽  
22Q11 Deletion Syndrome ◽  
Chromosome 22Q11
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