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Velocardiofacial syndrome with a rare t(2;22)
(2007-07-01)
Rearrangements involving chromosomes 2 and 22 were described not only as acquired abnormalities in a variety of human neoplasias but also in the constitutional karyotype suggesting the existence of a greater fragility in ...
Velocardiofacial syndrome with a rare t(2;22)
(2007-07-01)
Rearrangements involving chromosomes 2 and 22 were described not only as acquired abnormalities in a variety of human neoplasias but also in the constitutional karyotype suggesting the existence of a greater fragility in ...
VEGFA polymorphisms and cardiovascular anomalies in 22q11 microdeletion syndrome: a case-control and family-based study
(Sociedad de Biología de Chile, 2009)
Congenial heart disease revealing familial Velocardiofacial syndrome caused by 3 Mb deletion at 22q11 region
(Nature Publishing Group, 2018-10-01)
22q11 deletion syndrome and limb anomalies: Report on two Brazilian patients
(ALLIANCE COMMUNICATIONS GROUP DIVISION ALLEN PRESS, 2008)
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 ...
Tooth abnormalities and soft tissue changes in patients with velocardiofacial syndrome
(MOSBY-ELSEVIER, 2008)
Objective. The objective of this study was to investigate the prevalence of tooth abnormalities and soft tissue changes in patients with velocardiofacial syndrome. Study design. Twenty-six patients with velocardiofacial ...
Association between phenotype and deletion size in 22q11.2 microdeletion syndrome: systematic review and meta-analysis
(2019)
Background: Chromosome 22q11.2 microdeletion syndrome, a disorder caused by heterozygous loss of genetic material in chromosome region 22q11.2, has a broad range of clinical symptoms. The most common congenital anomalies ...
Practical guidelines for managing adults with 22q11.2 deletion syndrome.
(Macmillan Publishers Limited, 2015)
22q11.2 Deletion syndrome (22q11.2DS) is the most common microdeletion syndrome in humans, estimated to affect up to 1 in 2,000 live births. Major features of this multisystem condition include congenital anomalies, ...