22q11.2 deletion syndrome (DS 22q11.2) is a rare disease of genetic origin, caused by the loss of the q11.2 region of chromosome 22. It affects one in 4000 live newborns, and among the clinical manifestations that can occur in this syndrome are abnormalities in the parathyroid glands (producing calcium deficits), the palate, the heart and the thymus. It is also known as DiGeorge syndrome or velocardiofacial syndrome, among other names, depending on the clinical presentation of each individual. The main objective of the review was to update information on DS 22q11.2 from publications in the scientific literature. The daily activities of these patients are seriously impaired, due to the impact of the clinical manifestations. Interventi...
22q11.2 deletion syndrome (22q11.2DS) is a disorder caused by recurrent, chromosome-specific, low co...
OBJECTIVE: To investigate the clinical manifestations at diagnosis and during follow-up in patients...
OBJECTIVE: To investigate the clinical manifestations at diagnosis and during follow-up in patients...
22q11.2 deletion syndrome (DS 22q11.2) is a rare disease of genetic origin, caused by the loss of th...
22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion disorder, estimat...
Bülent Hacihamdioğlu,1 Duygu Hacihamdioğlu,2 Kenan Delil3 1Department of Pediatric Endocrinolog...
22q11.2 microdeletion syndrome, known also under the name of DiGeorge syndrome, is the most frequent...
The 22q11.2 deletion syndrome (22q11.2DS) is caused by hemizygous microdeletions on chromosome 22. 2...
The article presents own clinical observation of the chromosome 22q11.2 microdeletion syndrome in a ...
AbstractChromosome 22q11.2 deletion syndrome, or DiGeorge syndrome, or velocardiofacial syndrome, is...
To investigate the clinical manifestations at diagnosis and during follow-up in patients with 22q11....
Chromosome 22q11.2 deletion syndrome (22q11.2DS), a neurogenetic condition, is the most common micro...
22q11.2 deletion syndrome (22q11.2DS) is a disorder caused by recurrent, chromosome-specific, low co...
OBJECTIVE: To investigate the clinical manifestations at diagnosis and during follow-up in patients...
OBJECTIVE: To investigate the clinical manifestations at diagnosis and during follow-up in patients...
22q11.2 deletion syndrome (DS 22q11.2) is a rare disease of genetic origin, caused by the loss of th...
22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion disorder, estimat...
Bülent Hacihamdioğlu,1 Duygu Hacihamdioğlu,2 Kenan Delil3 1Department of Pediatric Endocrinolog...
22q11.2 microdeletion syndrome, known also under the name of DiGeorge syndrome, is the most frequent...
The 22q11.2 deletion syndrome (22q11.2DS) is caused by hemizygous microdeletions on chromosome 22. 2...
The article presents own clinical observation of the chromosome 22q11.2 microdeletion syndrome in a ...
AbstractChromosome 22q11.2 deletion syndrome, or DiGeorge syndrome, or velocardiofacial syndrome, is...
To investigate the clinical manifestations at diagnosis and during follow-up in patients with 22q11....
Chromosome 22q11.2 deletion syndrome (22q11.2DS), a neurogenetic condition, is the most common micro...
22q11.2 deletion syndrome (22q11.2DS) is a disorder caused by recurrent, chromosome-specific, low co...
OBJECTIVE: To investigate the clinical manifestations at diagnosis and during follow-up in patients...
OBJECTIVE: To investigate the clinical manifestations at diagnosis and during follow-up in patients...