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PedAM

Pediatric Disease Annotations & Medicines




Disease n syndrome
Phenotype C0152021|congenital heart disease
Sentences 14
PubMedID- 21390462 Objective: investigate the frequency of 22q11 deletion syndrome among patients with complex congenital heart disease.
PubMedID- 26040324 Conclusions: taken together, we finalized the diagnosis for this family as x-linked hypophosphatemia (xlh), and diagnosed this girl as marfan syndrome combined with xlh, and congenital heart disease.
PubMedID- 23934063 Objective: to describe the spectrum of congenital heart disease in children with down syndrome and their cytogenetic profile (and that of parents of those with translocation), and thyroid profile.
PubMedID- 25391181 Survival analysis of down syndrome with congenital heart disease: a 5-years registry at qsnich.
PubMedID- 25317860 Background: to alert for the diagnosis of the 22q11.2 deletion syndrome (22q11.2ds) in patients with congenital heart disease (chd).
PubMedID- 20642908 Clinical outcome in down syndrome patients with congenital heart disease.
PubMedID- 21776272 We present a special case of infantile marfan syndrome with a congenital heart disease.
PubMedID- 24880467 Molecular screening for 22q11.2 deletion syndrome in patients with congenital heart disease.
PubMedID- 20383526 One had down syndrome, with congenital heart disease and pulmonary hypertension.
PubMedID- 23320208 It suggests that this gene may play an important role in heart development and may potentially contribute to congenital heart disease in patients with 4q deletion syndrome [19].
PubMedID- 21257016 Complex congenital heart disease in unaffected relatives of adults with 22q11.2 deletion syndrome.
PubMedID- 25376777 Background: the rearrangements in the 22q11.2 chromosomal region, responsible for the 22q11.2 deletion and microduplication syndromes, are frequently associated with congenital heart disease (chd).
PubMedID- 25289257 For example, jacobsen syndrome is associated with mcs, congenital heart disease, and platelet dysfunction.
PubMedID- 26504441 The prevalence of congenital heart disease in infants with down syndrome is 40%, compared with 0.3% in children who have normal chromosomes.

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