Abstract Background: 22q11.2 deletion syndrome (22q11.2DS) is a common microdeletion syndrome, which occurs in approximately 1:4000 births. Familial autosomal dominant recurrence of the syndrome is detected in about 8-28% of the cases. Aim of this study is to evaluate the intergenerational and intrafamilial phenotypic variability in a cohort of familial cases carrying a 22q11.2 deletion. Methods: Thirty-two 22q11.2DS subjects among 26 families were enrolled. Results: Second generation subjects showed a significantly higher number of features than their transmitting parents (212 vs 129, P = 0.0015). Congenital heart defect, calcium-phosphorus metabolism abnormalities, developmental and speech delay were more represented in the second gene...
Background: The rearrangements of the 22q11.2 chromosomal region, most frequently deletions and dupl...
OBJECTIVE: To investigate the clinical manifestations at diagnosis and during follow-up in patients ...
Chromosome 22q11.2 deletion syndrome (22q11.2DS), a neurogenetic condition, is the most common micro...
Abstract Background: 22q11.2 deletion syndrome (22q11.2DS) is a common microdeletion syndrome, whic...
BACKGROUND:22q11.2 deletion syndrome (22q11.2DS) is a common microdeletion syndrome, which occurs in...
Background: 22q11.2 deletion syndrome (22q11.2DS) is a common microdeletion syndrome, which occurs i...
22q11.2 deletion syndrome (22q11.2DS) is a common microdeletion syndrome, which occurs in approximat...
The work represents a family which includes two siblings with chromosome 22q11.2 deletion syndrome. ...
22q11.2 deletion syndrome is the most frequent microdeletion syndrome in humans and caused by hemizy...
Abstract Background The 22q11.2 deletion syndrome (22q11.2DS) is caused by hemizygous microdeletions...
The 22q11.2 Deletion Syndrome (22q11.2DS), which encompasses Shprintzen syndrome, DiGeorge and veloc...
The 22q11.2 duplication syndrome is an extremely variable disorder with a phenotype ranging from nor...
In this case report, we present a paternal transmission of a classic 3 Mb 22q11.2 deletion syndrome ...
Chromosome 22q11.2 deletion syndrome (22qDS) is an inherited autosomal dominant disorder. It is the ...
To investigate the clinical manifestations at diagnosis and during follow-up in patients with 22q11....
Background: The rearrangements of the 22q11.2 chromosomal region, most frequently deletions and dupl...
OBJECTIVE: To investigate the clinical manifestations at diagnosis and during follow-up in patients ...
Chromosome 22q11.2 deletion syndrome (22q11.2DS), a neurogenetic condition, is the most common micro...
Abstract Background: 22q11.2 deletion syndrome (22q11.2DS) is a common microdeletion syndrome, whic...
BACKGROUND:22q11.2 deletion syndrome (22q11.2DS) is a common microdeletion syndrome, which occurs in...
Background: 22q11.2 deletion syndrome (22q11.2DS) is a common microdeletion syndrome, which occurs i...
22q11.2 deletion syndrome (22q11.2DS) is a common microdeletion syndrome, which occurs in approximat...
The work represents a family which includes two siblings with chromosome 22q11.2 deletion syndrome. ...
22q11.2 deletion syndrome is the most frequent microdeletion syndrome in humans and caused by hemizy...
Abstract Background The 22q11.2 deletion syndrome (22q11.2DS) is caused by hemizygous microdeletions...
The 22q11.2 Deletion Syndrome (22q11.2DS), which encompasses Shprintzen syndrome, DiGeorge and veloc...
The 22q11.2 duplication syndrome is an extremely variable disorder with a phenotype ranging from nor...
In this case report, we present a paternal transmission of a classic 3 Mb 22q11.2 deletion syndrome ...
Chromosome 22q11.2 deletion syndrome (22qDS) is an inherited autosomal dominant disorder. It is the ...
To investigate the clinical manifestations at diagnosis and during follow-up in patients with 22q11....
Background: The rearrangements of the 22q11.2 chromosomal region, most frequently deletions and dupl...
OBJECTIVE: To investigate the clinical manifestations at diagnosis and during follow-up in patients ...
Chromosome 22q11.2 deletion syndrome (22q11.2DS), a neurogenetic condition, is the most common micro...