scholarly journals Distal 22q11.2 microduplication syndrome

2020 ◽  
Author(s):  
Keyword(s):  
22Q11.2 Microduplication

22q11.2 microduplication in two patients with bladder exstrophy and hearing impairment

2010 ◽  
Vol 53 (2) ◽  
pp. 61-65 ◽  
Author(s):  
Johanna Lundin ◽  
Cilla Söderhäll ◽  
Lina Lundén ◽  
Anna Hammarsjö ◽  
Iréne White ◽  
...  
Keyword(s):  
Hearing Impairment ◽  
Bladder Exstrophy ◽  
22Q11.2 Microduplication

The first case of myoclonic epilepsy in a child with a de novo 22q11.2 microduplication

2011 ◽  
Vol 155 (12) ◽  
pp. 3054-3059 ◽  
Author(s):  
Maria Piccione ◽  
Davide Vecchio ◽  
Simona Cavani ◽  
Michela Malacarne ◽  
Mauro Pierluigi ◽  
...  
Keyword(s):  
De Novo ◽  
Myoclonic Epilepsy ◽  
First Case ◽  
22Q11.2 Microduplication

scholarly journals Detection of 22q11.2 microduplication by cell‐free DNA screening and chromosomal microarray in fetus with multiple anomalies

2016 ◽  
Vol 48 (4) ◽  
pp. 530-532 ◽  
Author(s):  
W.‐J. Wu ◽  
G.‐C. Ma ◽  
Y.‐S. Lin ◽  
C.‐H. Yeang ◽  
Y.‐H. Ni ◽  
...  
Keyword(s):  
Chromosomal Microarray ◽  
Cell Free Dna ◽  
Free Dna ◽  
22Q11.2 Microduplication

scholarly journals A unique phenotype in a patient with a rare triplication of the 22q11.2 region and new clinical insights of the 22q11.2 microduplication syndrome: a report of two cases

2015 ◽  
Vol 15 (1) ◽  
Author(s):  
Sara O. Vaz ◽  
Renato Pires ◽  
Luís M. Pires ◽  
Isabel M. Carreira ◽  
Rui Anjos ◽  
...  
Keyword(s):  
22Q11.2 Microduplication

scholarly journals Identification of Proximal and Distal 22q11.2 Microduplications among Patients with Cleft Lip and/or Palate: A Novel Inherited Atypical 0.6 Mb Duplication

2015 ◽  
Vol 2015 ◽  
pp. 1-5 ◽  
Author(s):  
Maryam Sedghi ◽  
Hossein Abdali ◽  
Mehrdad Memarzadeh ◽  
Mansoor Salehi ◽  
Narges Nouri ◽  
...  
Keyword(s):  
Cleft Lip ◽  
Genetic Counselors ◽  
Chromosome 22 ◽  
Microdeletion Syndromes ◽  
Low Copy Repeats ◽  
Phenotypic Features ◽  
Genetic Assessment ◽  
First Time ◽  
22Q11.2 Microduplication

Misalignments of low-copy repeats (LCRs) located in chromosome 22, particularly band 22q11.2, predispose to rearrangements. A variety of phenotypic features are associated with 22q11.2 microduplication syndrome which makes it challenging for the genetic counselors to recommend appropriate genetic assessment and counseling for the patients. In this study, multiplex ligation probe dependent amplification (MLPA) analysis was performed on 378 patients with cleft lip and/or palate to characterize rearrangements in patients suspected of 22q11.2 microduplication and microdeletion syndromes. Of 378 cases, 15 were diagnosed with a microdeletion with various sizes and 3 with duplications. For the first time in this study an atypical 0.6 Mb duplication is reported. Illustration of the phenotypes associated with the microduplications increases the knowledge of phenotypes reported in the literature.

Polymicrogyria in a child with inv dup del(9p) and 22q11.2 microduplication

2009 ◽  
Vol 149A (3) ◽  
pp. 475-481 ◽  
Author(s):  
A.L. Mosca ◽  
P. Callier ◽  
L. Faivre ◽  
N. Marle ◽  
N. Mejean ◽  
...  
Keyword(s):  
22Q11.2 Microduplication

22q11.2 Microduplication with Thyroid Hemiagenesis

2013 ◽  
Vol 79 (4) ◽  
pp. 243-249 ◽  
Author(s):  
Hae Jung Kim ◽  
Heui Seung Jo ◽  
Eun-Gyong Yoo ◽  
In Hyuk Chung ◽  
Sung Woo Kim ◽  
...  
Keyword(s):  
Thyroid Hemiagenesis ◽  
22Q11.2 Microduplication

22q11.2 Microduplication in Two Patients with Bladder Exstrophy and Hearing Impairment

2010 ◽  
Vol 6 ◽  
pp. S20-S21
Author(s):  
Agneta Nordenskjöld ◽  
Johanna Lundin ◽  
Cilla Soderhall ◽  
Lina Lundén ◽  
Anna Hammarsjö ◽  
...  
Keyword(s):  
Hearing Impairment ◽  
Bladder Exstrophy ◽  
22Q11.2 Microduplication

Ocular Manifestations of 22q11.2 Microduplication

Ophthalmology ◽  
2014 ◽  
Vol 121 (1) ◽  
pp. 392-398 ◽  
Author(s):  
Jose A. Cordovez ◽  
Jenina Capasso ◽  
Michelle D. Lingao ◽  
Karthikeyan A. Sadagopan ◽  
George L. Spaeth ◽  
...  
Keyword(s):  
Ocular Manifestations ◽  
22Q11.2 Microduplication
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