P.6.f.005 Prevalence of substance use and the relation with psychosis and catechol-O-methyltransferase in patients with chromosome 22q11 deletion syndrome

2015 ◽  
Vol 25 ◽  
pp. S630 ◽  
Author(s):  
W.A.M. Vingerhoets ◽  
M.J.F. Van Oudenaren ◽  
E.D.A. Van Duin ◽  
O.J.N. Bloemen ◽  
J. Booij ◽  
...  
Keyword(s):  
Substance Use ◽  
Deletion Syndrome ◽  
22Q11 Deletion ◽  
22Q11 Deletion Syndrome ◽  
Chromosome 22Q11

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

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

Delayed-Onset Hypoparathyroidism in an Adolescent with Chromosome 22Q11 Deletion Syndrome

2011 ◽  
Vol 17 (5) ◽  
pp. e123-e125 ◽  
Author(s):  
Jaspreet Kambo ◽  
Christian Girgis ◽  
Bernard Champion ◽  
Jack Wall
Keyword(s):  
Deletion Syndrome ◽  
22Q11 Deletion ◽  
22Q11 Deletion Syndrome ◽  
Delayed Onset ◽  
Chromosome 22Q11

Chromosome 22q11 deletion syndrome (CATCH 22): neuropsychiatric and neuropsychological aspects

2002 ◽  
Vol 44 (01) ◽  
pp. 44 ◽  
Author(s):  
Lena Niklasson ◽  
Peder Rasmussen ◽  
Sólveig Óskarsdóttir ◽  
Christopher Gillberg
Keyword(s):  
Deletion Syndrome ◽  
22Q11 Deletion ◽  
22Q11 Deletion Syndrome ◽  
Chromosome 22Q11 ◽  
Catch 22

22q11 Deletion Syndrome and Limb Anomalies: Report on Two Brazilian Patients

2008 ◽  
Vol 45 (5) ◽  
pp. 561-566 ◽  
Author(s):  
Nancy Mizue Kokitsu-Nakata ◽  
Maria Leine Guion-Almeida ◽  
Antonio Richieri-Costa
Keyword(s):  
Developmental Delay ◽  
Congenital Heart ◽  
Clinical Signs ◽  
Velopharyngeal Insufficiency ◽  
Deletion Syndrome ◽  
22Q11 Deletion ◽  
22Q11 Deletion Syndrome ◽  
Cardiac Anomalies ◽  
Limb Anomalies ◽  
Chromosome 22Q11

Objective: To report on two Brazilian patients with chromosome 22q11 deletion who presented with velopharyngeal insufficiency, congenital heart anomalies, developmental delay, and limb anomalies. The pattern of limb anomalies in these patients, which range from ectrodactyly to limb synostosis, is very uncommon in 22q11 deletion syndrome. Conclusion: These patients widen the spectrum of clinical signs of the 22q11 deletion syndrome and alert researchers to conduct additional investigation in patients with limb involvement with velopharyngeal insufficiency and/or cardiac anomalies, along with developmental delay.

scholarly journals A Case of Chromosome 22q11 Deletion Syndrome Diagnosed in a 32-Year-Old Man with Hypoparathyroidism

2004 ◽  
Vol 89 (10) ◽  
pp. 4817-4820 ◽  
Author(s):  
Naim M. Maalouf ◽  
Khashayar Sakhaee ◽  
Clarita V. Odvina
Keyword(s):  
Deletion Syndrome ◽  
22Q11 Deletion ◽  
22Q11 Deletion Syndrome ◽  
Chromosome 22Q11 ◽  
Symptomatic Hypocalcemia ◽  
History Of ◽  
Clonic Seizures ◽  
Physical Findings ◽  
Variable Clinical Presentation

Abstract Congenital hypoparathyroidism typically manifests with hypocalcemia with or without associated characteristic physical findings and is usually diagnosed during the neonatal period. This report describes an African-American male who was diagnosed at age 32 yr to have dysgenesis of the parathyroid glands due to chromosome 22 microdeletion. Symptomatic hypocalcemia did not develop until age 14 yr, a few weeks after initiation of anticonvulsant therapy for generalized tonic-clonic seizures. Because of the timing for onset of symptomatic hypocalcemia, it was presumed that the patient had anticonvulsant-induced hypocalcemia, and he carried that diagnosis for 18 yr. Chromosome 22q11 deletion syndrome was first suspected at age 32 yr, based on the findings of subtle dysmorphic facial features and a history of learning disability in a patient with PTH-deficient hypocalcemia. The diagnosis was confirmed by fluorescence in situ hybridization analysis. This case underscores the variable clinical presentation of this congenital form of hypoparathyroidism. Chromosome 22q11 microdeletions are relatively common, and the diagnosis should be considered even in adults with hypoparathyroidism because of the potential benefit of genetic counseling.

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