Association of deletion 22 and trisomy 21: A likely random association in patients with conotruncal heart defects

Abstract

[No abstract available

Melt functionalization of linear low‐density poly(ethylene) with succinimide and N‐hydroxy succinimide by thermolysis method

“…We agree with Digilio et al [2005] that occurrence of chromosomal or Mendelian syndromes and del22q11.2 in the same patient is extremely rare. However, as we have underlined based on our findings in previously reported cases, del22q11.2 should be considered in any patient who exhibits typical clinical features of del22q11.2, such as CTHDs, hypocalcemia, or the characteristic facial dysmorphism [Derbent et al, 2002, 2004].…”

“…The text of a recent Invited Comment written by Digilio et al [2005] presented some criticism of our manuscript entitled “Co‐occurrence of Chromosome 22q11.2 Microdeletion and Trisomy 21 Mosaicism.” We thank the authors for their informative remarks about this association, but would like to point out that we definitely do not recommend investigating for chromosome 22q11.2 microdeletion (del22q11.2) in all cases of chromosomal aneuploidy with accompanying conotruncal heart defect (CTHD) [Derbent et al, 2002]. It seems that Digilio et al [2005] took our suggestion to investigate this microdeletion in patients with “particular” conditions to mean that we recommend this for “all patients” with chromosomal mosaicism or aneuploidy who also have a CTHD.…”

Genetic heterogeneity and phenotypic anomalies in children with atrioventricular canal defect and tetralogy of Fallot

“…In the present series, we observed a case of DiGeorge anomaly due to maternal diabetes (Digilio et al, 1995a), but no patient had 22q11 deletion, suggesting that this specific genetic defect, frequent in children with TOF (Amati et al, 1995;Goldmuntz et al, 1998), is rarely present when the TOF is associated with the AVCD (Digilio et al, 2005).…”

Variable phenotype and associations in chromosome 22q11.2 microdeletion

“…The text of a recent Invited Comment written by Digilio et al [2005] presented some criticism of our manuscript entitled ''Co-occurrence of Chromosome 22q11.2 Microdeletion and Trisomy 21 Mosaicism.'' We thank the authors for their informative remarks about this association, but would like to point out that we definitely do not recommend investigating for chromosome 22q11.2 microdeletion (del22q11.2) in all cases of chromosomal aneuploidy with accompanying conotruncal heart defect (CTHD) [Derbent et al, 2002].…”

“…We thank the authors for their informative remarks about this association, but would like to point out that we definitely do not recommend investigating for chromosome 22q11.2 microdeletion (del22q11.2) in all cases of chromosomal aneuploidy with accompanying conotruncal heart defect (CTHD) [Derbent et al, 2002]. It seems that Digilio et al [2005] took our suggestion to investigate this microdeletion in patients with ''particular'' conditions to mean that we recommend this for ''all patients'' with chromosomal mosaicism or aneuploidy who also have a CTHD.…”