scholarly journals Int22h1/Int22h2 ‐mediated Xq28 duplication syndrome: de novo duplications, prenatal diagnoses, and additional phenotypic features

2020 ◽  
Vol 41 (7) ◽  
pp. 1238-1249 ◽  
Author(s):  
Rami A. Ballout ◽  
Cheryl Dickerson ◽  
Myra J. Wick ◽  
Najla Al‐Sweel ◽  
Amanda S. Openshaw ◽  
...  
Keyword(s):  
De Novo ◽  
Xq28 Duplication ◽  
Phenotypic Features ◽  
Duplication Syndrome

scholarly journals The int22h1/int22h2-Mediated Xq28 Duplication Syndrome: An Intersection between Neurodevelopment, Immunology, and Cancer

Genes ◽  
2021 ◽  
Vol 12 (6) ◽  
pp. 860
Author(s):  
Rami A. Ballout ◽  
Ayman W. El-Hattab
Keyword(s):  
Intellectual Disability ◽  
X Chromosome ◽  
Potential Role ◽  
Pediatric Patients ◽  
De Novo ◽  
Facial Features ◽  
Immunological Responses ◽  
Xq28 Duplication ◽  
Duplication Syndrome

The int22h1/int22h2-mediated Xq28 duplication syndrome is a rare X-linked intellectual disability syndrome (XLIDS) arising from a duplication of the segment between intron 22 homologous regions 1 and 2, on the q28 subregion of the X chromosome. The main clinical features of the syndrome include intellectual disability, neurobehavioral abnormalities, and dysmorphic facial features. Due to the X-linked nature of the syndrome, affected males exhibit more severe phenotypes compared with heterozygous females. A unique distinguishing feature of the syndrome across the sexes, however, is a peculiar combination of recurrent sinopulmonary infections and atopy exclusively seen in a subset of affected males. In addition to the ‘typical’ 0.5 Mb duplication detected in most cases reported to date with the syndrome, a shortened centromeric version, and another 0.2 Mb telomerically shifted one, have been recently identified, with most detected duplications being maternally inherited, except for three recent cases found to have de novo duplications. Interestingly, a recently reported case of an affected male suggests a possible association of the syndrome with multiple malignancies, an observation that has been recently replicated in two pediatric patients. As a result, a better understanding of the pathogenesis of int22h1/int22h2-mediated Xq28 duplication syndrome may grant us a better understanding of the sex-specific differences in immunological responses, as well as the potential role of the genes involved by the duplication, in oncogenesis.

Poster #T152 PHENOTYPIC FEATURES OF PATIENTS WITH SCHIZOPHRENIA CARRYING DE NOVO GENE MUTATIONS

2014 ◽  
Vol 153 ◽  
pp. S344
Author(s):  
Pierre J. Malherbe ◽  
J. Louis Roos ◽  
J Louw Roos ◽  
Maria Karayiorgou ◽  
René Ehlers
Keyword(s):  
De Novo ◽  
Gene Mutations ◽  
De Novo Gene ◽  
Phenotypic Features

Clinical characterization and identification of duplication breakpoints in a Japanese family with Xq28 duplication syndrome includingMECP2

2014 ◽  
Vol 164 (4) ◽  
pp. 924-933 ◽  
Author(s):  
Daisuke Fukushi ◽  
Kenichiro Yamada ◽  
Noriko Nomura ◽  
Misako Naiki ◽  
Reiko Kimura ◽  
...  
Keyword(s):  
Japanese Family ◽  
Xq28 Duplication ◽  
Duplication Syndrome

scholarly journals Rare de novo inversion-duplication case with pure 3qter duplication syndrome including an overlap of the dup(3q) critical region: A case report

2017 ◽  
Vol 13 (6) ◽  
pp. 3494-3496 ◽  
Author(s):  
George Imataka ◽  
Yoshiyuki Watabe ◽  
Sayuri Kajitani ◽  
Shun Watanabe ◽  
Junko Ichikawa ◽  
...  
Keyword(s):  
Case Report ◽  
Critical Region ◽  
De Novo ◽  
Duplication Syndrome

scholarly journals A De Novo Xp11.23 Duplication in a Girl with a Severe Phenotype: Expanding the Clinical Spectrum

2017 ◽  
Vol 07 (02) ◽  
pp. 074-077
Author(s):  
Pinar Arican ◽  
Dilek Cavusoglu ◽  
Pinar Gencpinar ◽  
Berk Ozyilmaz ◽  
Taha Ozdemir ◽  
...  
Keyword(s):  
Case Report ◽  
Intellectual Disability ◽  
Synovial Sarcoma ◽  
De Novo ◽  
Clinical Spectrum ◽  
Global Developmental Delay ◽  
Speech Delay ◽  
Severe Phenotype ◽  
First Case ◽  
Duplication Syndrome

AbstractThe Xp11.22–p11.23 duplication syndrome was described in 2009 by Giorda et al and is characterized by intellectual disability, speech delay, and electroencephalography anomalies. We report a case of a 23-month-old girl who presented with epilepsy and global developmental delay and who had a small duplication at Xp11.23. The case we present here is the first case showing the clinical features of Xp11.22–p11.23 duplication syndrome only involving synovial sarcoma, X breakpoint (SSX) genes: SSX1, SSX3, SSX4, and SSX9. This case report contributes to an expanding clinical spectrum of Xp11.22–p11.23 duplication syndrome.

scholarly journals De novo t(X;21)(q28;q11) in a girl with phenotypic features of Williams-Beuren syndrome.

1992 ◽  
Vol 29 (10) ◽  
pp. 747-749 ◽  
Author(s):  
L Telvi ◽  
J M Pinard ◽  
R Ion ◽  
P M Sinet ◽  
A Nicole ◽  
...  
Keyword(s):  
De Novo ◽  
Phenotypic Features
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