22q11.2 microduplication
Recently Published Documents


TOTAL DOCUMENTS

26
(FIVE YEARS 1)

H-INDEX

8
(FIVE YEARS 0)

2021 ◽  
pp. 1-5
Author(s):  
Matthias Fischer ◽  
Eva Klopocki

The 22q11.2 microduplication syndrome shows variable phenotypes with reduced penetrance compared to the 22q11.2 deletion syndrome. We report a woman with overgrowth and macrocephaly, mild mental retardation, heart defect, kidney anomalies, and dysmorphic features. Array-CGH analysis revealed a 246-kb duplication at the 22q11.2 region. No additional clinically significant CNVs were found. The case resembles a previously published case also showing overgrowth and macrocephaly with an almost identical 22q11.2 duplication of 252 kb.


2019 ◽  
Vol 7 (6) ◽  
Author(s):  
Johanna Lundin ◽  
Ellen Markljung ◽  
Izabella Baranowska Körberg ◽  
Wolfgang Hofmeister ◽  
Jia Cao ◽  
...  

2018 ◽  
Vol 39 (4) ◽  
pp. 532-538
Author(s):  
Federico Di Matteo ◽  
Paolo Bettin ◽  
Giulia Ferrari ◽  
Marina Fiori ◽  
Carlo Ciampi ◽  
...  

2018 ◽  
Vol 07 (03) ◽  
pp. 138-142 ◽  
Author(s):  
Ranjit Kylat

AbstractMicroduplication of 22q11.2 involves having an extra copy at position q11.2 on chromosome 22. Very few cases have been reported but the real incidence may be higher as the absence of obvious clinical signs makes diagnosis difficult. In the cases that are diagnosed, the phenotype is extremely variable. We describe a case of severe micrognathia, cleft palate, and Pierre-Robin sequence. A prenatal ultrasound showed severe micrognathia and subsequent microarray done on amniocentesis revealed the microduplication of 22q11.2, which was confirmed postnatally. Although micrognathia has often been detected in this microduplication, the constellation of these findings has not been previously described.


2017 ◽  
Vol 5 (3) ◽  
pp. 351-356 ◽  
Author(s):  
Linda T. Nguyen ◽  
Rachel Fleishman ◽  
Emilee Flynn ◽  
Rajeev Prasad ◽  
Achintya Moulick ◽  
...  

2017 ◽  
Vol 4 ◽  
pp. 2329048X1773765 ◽  
Author(s):  
Elana Pinchefsky ◽  
Laurence Laneuville ◽  
Myriam Srour

Distal chromosome 22q11.2 microduplications are associated with a wide range of phenotypes and unclear pathogenicity. The authors report on a 3-year-old girl with global developmental delay harboring a de novo 1.24 Mb distal chromosome 22q11.2 microduplication and a paternally inherited 0.25 Mb chromosome 4p14 microduplication. The authors review clinical features of 30 reported cases of distal 22q11.2 duplications. Common features include developmental delay (93%), neuropsychiatric features (26%), and nonspecific facial dysmorphisms (74%). In 70% of cases, the distal 22q11.2 duplications were inherited, and the majority of the carrier parents were phenotypically normal. Furthermore, 30% of probands carried an additional copy number variant. Review of the phenotype in individuals carrying microduplications involving similar low copy repeats (LCR) failed to establish any clear genotype–phenotype correlations. Distal 22q11.2 duplications represent a major challenge for genetic counseling and prediction of clinical consequences. Our report suggests a pathogenic role of distal 22q11.2 duplications and supports a “multiple hit” hypothesis underlying its variable expressivity and phenotypic severity.


2016 ◽  
Vol 48 (4) ◽  
pp. 530-532 ◽  
Author(s):  
W.‐J. Wu ◽  
G.‐C. Ma ◽  
Y.‐S. Lin ◽  
C.‐H. Yeang ◽  
Y.‐H. Ni ◽  
...  

Sign in / Sign up

Export Citation Format

Share Document