A case report of T-box 1 mutation causing phenotypic features of chromosome 22q11.2 deletion syndrome

Clinical Diabetes and Endocrinology ◽

10.1186/s40842-019-0087-6 ◽

2019 ◽

Vol 5 (1) ◽

Author(s):

Raad A. Haddad ◽

Gregory A. Clines ◽

Jennifer A. Wyckoff

Keyword(s):

Case Report ◽

22Q11.2 Deletion Syndrome ◽

Deletion Syndrome ◽

22Q11.2 Deletion ◽

T Box ◽

Chromosome 22Q11.2 ◽

Chromosome 22Q11.2 Deletion Syndrome ◽

Phenotypic Features

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Fatal overwhelming postsplenectomy infection due to Streptococcus pneumoniae serotype 10A with atypical polysaccharide capsule in a patient with chromosome 22q11.2 deletion syndrome: A case report

Journal of Infection and Chemotherapy ◽

10.1016/j.jiac.2018.07.015 ◽

2019 ◽

Vol 25 (3) ◽

pp. 192-196 ◽

Author(s):

Keiko Matsuoka ◽

Itaru Yanagihara ◽

Yukiko Kawazu ◽

Maho Sato ◽

Masahiro Nakayama ◽

...

Keyword(s):

Case Report ◽

Streptococcus Pneumoniae ◽

22Q11.2 Deletion Syndrome ◽

Deletion Syndrome ◽

22Q11.2 Deletion ◽

Overwhelming Postsplenectomy Infection ◽

Chromosome 22Q11.2 ◽

Polysaccharide Capsule ◽

Chromosome 22Q11.2 Deletion Syndrome

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Post vaccine acute disseminated encephalomyelitis as the first manifestation of chromosome 22q11.2 deletion syndrome in a 15-month old baby: A case report

Vaccine ◽

10.1016/j.vaccine.2014.08.047 ◽

2014 ◽

Vol 32 (43) ◽

pp. 5552-5554 ◽

Author(s):

Mariella Valenzise ◽

Antonio Cascio ◽

Malgorzata Wasniewska ◽

Giuseppina Zirilli ◽

Maria Ausilia Catena ◽

...

Keyword(s):

Case Report ◽

22Q11.2 Deletion Syndrome ◽

Acute Disseminated Encephalomyelitis ◽

Deletion Syndrome ◽

22Q11.2 Deletion ◽

Chromosome 22Q11.2 ◽

Chromosome 22Q11.2 Deletion Syndrome

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CHARGE (Coloboma, Heart Defect, Atresia Choanae, Retarded Growth and Development, Genital Hypoplasia, Ear Anomalies/Deafness) Syndrome and Chromosome 22q11.2 Deletion Syndrome: A Comparison of Immunologic and Nonimmunologic Phenotypic Features

10.1542/peds.2008-3400 ◽

2009 ◽

Vol 123 (5) ◽

pp. e871-e877 ◽

Author(s):

S. Jyonouchi ◽

D. M. McDonald-McGinn ◽

S. Bale ◽

E. H. Zackai ◽

K. E. Sullivan

Keyword(s):

Growth And Development ◽

22Q11.2 Deletion Syndrome ◽

Deletion Syndrome ◽

22Q11.2 Deletion ◽

Heart Defect ◽

Retarded Growth ◽

Chromosome 22Q11.2 ◽

Chromosome 22Q11.2 Deletion Syndrome ◽

Phenotypic Features ◽

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Evans Syndrome in a Patient with Chromosome 22q11.2 Deletion Syndrome: A Case Report

Pediatric Hematology and Oncology ◽

10.1080/0880010390158685 ◽

2003 ◽

Vol 20 (2) ◽

pp. 167-172 ◽

Author(s):

Christian P. Kratz ◽

Tim Niehues ◽

Sigrid Lyding ◽

Andreas Heusch ◽

Gisela Janssen ◽

...

Keyword(s):

Case Report ◽

22Q11.2 Deletion Syndrome ◽

Deletion Syndrome ◽

Evans Syndrome ◽

22Q11.2 Deletion ◽

Chromosome 22Q11.2 ◽

Chromosome 22Q11.2 Deletion Syndrome

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Seizures as the first manifestation of chromosome 22q11.2 deletion syndrome in a 40-year old man: a case report

Journal of Medical Case Reports ◽

10.1186/1752-1947-1-167 ◽

2007 ◽

Vol 1 (1) ◽

Author(s):

Adriano R Tonelli ◽

Kalyan Kosuri ◽

Sainan Wei ◽

Davoren Chick

Keyword(s):

Case Report ◽

22Q11.2 Deletion Syndrome ◽

Deletion Syndrome ◽

22Q11.2 Deletion ◽

Chromosome 22Q11.2 ◽

Chromosome 22Q11.2 Deletion Syndrome

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A Cross-Sectional Analysis of the Development of Response Inhibition in Children with Chromosome 22q11.2 Deletion Syndrome

Frontiers in Psychiatry ◽

10.3389/fpsyt.2013.00081 ◽

2013 ◽

Vol 4 ◽

Author(s):

Heather M. Shapiro ◽

Ling M. Wong ◽

Tony J. Simon

Keyword(s):

Response Inhibition ◽

22Q11.2 Deletion Syndrome ◽

Deletion Syndrome ◽

22Q11.2 Deletion ◽

Cross Sectional ◽

Cross Sectional Analysis ◽

Chromosome 22Q11.2 ◽

Chromosome 22Q11.2 Deletion Syndrome ◽

Sectional Analysis

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Secondary immunologic consequences in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)

Clinical Immunology ◽

10.1016/j.clim.2010.04.011 ◽

2010 ◽

Vol 136 (3) ◽

pp. 409-418 ◽

Author(s):

R. Zemble ◽

E. Luning Prak ◽

K. McDonald ◽

D. McDonald-McGinn ◽

E. Zackai ◽

...

Keyword(s):

Digeorge Syndrome ◽

22Q11.2 Deletion Syndrome ◽

Velocardiofacial Syndrome ◽

Deletion Syndrome ◽

22Q11.2 Deletion ◽

Chromosome 22Q11.2 ◽

Chromosome 22Q11.2 Deletion Syndrome

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Chromosome 22q11.2 Deletion Syndrome

Encyclopedia of Medical Immunology ◽

10.1007/978-1-4614-8678-7_300060 ◽

2020 ◽

pp. 156-156

Keyword(s):

22Q11.2 Deletion Syndrome ◽

Deletion Syndrome ◽

22Q11.2 Deletion ◽

Chromosome 22Q11.2 ◽

Chromosome 22Q11.2 Deletion Syndrome

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Atypical attentional filtering of visual information in youth with chromosome 22q11.2 deletion syndrome as indexed by event-related potentials

NeuroImage Clinical ◽

10.1016/j.nicl.2021.102877 ◽

2021 ◽

pp. 102877

Author(s):

S.R. Linton ◽

A.M. Popa ◽

S.J. Luck ◽

K. Bolden ◽

K. Angkustsiri ◽

...

Keyword(s):

Visual Information ◽

Event Related Potentials ◽

22Q11.2 Deletion Syndrome ◽

Deletion Syndrome ◽

22Q11.2 Deletion ◽

Chromosome 22Q11.2 ◽

Related Potentials ◽

Chromosome 22Q11.2 Deletion Syndrome

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Symptomatic hypocalcemia after treatment for hyperthyroidism in a woman with chromosome 22q11.2 deletion syndrome complicated by Graves’ disease: longitudinal changes in the number of subsets of CD4 and CD8 lymphocytes after thyroidectomy

Endocrine Journal ◽

10.1507/endocrj.ej20-0717 ◽

2021 ◽

Author(s):

Toshie Iijima ◽

Teruo Jojima ◽

Soichiro Hosonuma ◽

Eriko Ohhira ◽

Takuya Tomaru ◽

...

Keyword(s):

22Q11.2 Deletion Syndrome ◽

Deletion Syndrome ◽

Graves Disease ◽

22Q11.2 Deletion ◽

Longitudinal Changes ◽

Chromosome 22Q11.2 ◽

Symptomatic Hypocalcemia ◽

Chromosome 22Q11.2 Deletion Syndrome

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