Interstitial deletion of 7q22.1q31.1 in a boy with structural brain abnormality, cardiac defect, developmental delay, and dysmorphic features

2016 ◽  
Vol 172 (2) ◽  
pp. 92-101 ◽  
Author(s):  
Olivia L. Katz ◽  
Ian D. Krantz ◽  
Sarah E. Noon
Keyword(s):  
Developmental Delay ◽  
Interstitial Deletion ◽  
Cardiac Defect ◽  
Brain Abnormality ◽  
Dysmorphic Features ◽  
Structural Brain

scholarly journals Interstitial deletion of 6q25.2–q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss

2008 ◽  
Vol 17 (5) ◽  
pp. 573-581 ◽  
Author(s):  
Sandesh Chakravarthy Sreenath Nagamani ◽  
Ayelet Erez ◽  
Christine Eng ◽  
Zhishuo Ou ◽  
Craig Chinault ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Developmental Delay ◽  
Interstitial Deletion ◽  
Microdeletion Syndrome ◽  
Dysmorphic Features

scholarly journals An Interstitial Deletion at 10q26.2q26.3

2014 ◽  
Vol 2014 ◽  
pp. 1-3 ◽  
Author(s):  
Ivan Y. Iourov ◽  
Svetlana G. Vorsanova ◽  
Oxana S. Kurinnaia ◽  
Yuri B. Yurov
Keyword(s):  
Developmental Delay ◽  
In Silico ◽  
Array Comparative Genomic Hybridization ◽  
Index Patient ◽  
Interstitial Deletion ◽  
Comparative Genomic ◽  
Phenotypic Effect ◽  
Chromosome 10Q ◽  
Dysmorphic Features

We present a case of an interstitial subtelomeric 10q26 deletion in a male child with moderate developmental delay and minor dysmorphic features. Using array comparative genomic hybridization (CGH) and fluorescencein situhybridization (FISH), we have detected an interstitial deletion at 10q26.2q26.3 encompassing a 5.8 Mb region and spanning 24 genes. Interestingly, losses of this chromosome 10 region have not been previously associated with a phenotype outcome. According to anin silicoevaluation, we have suggested thatPPP2R2DandBNIP3losses are likely a cause of developmental delay in the index patient. Our data allow to speculating that haploinsufficiency of these two genes in 10q26.3, which is usually ignored in the context of chromosome 10q deletions, has a phenotypic effect.

scholarly journals Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance

2018 ◽  
Vol 93 (4) ◽  
pp. 752-761 ◽  
Author(s):  
Z. Powis ◽  
K.D. Farwell Hagman ◽  
C. Mroske ◽  
K. McWalter ◽  
J.S. Cohen ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Global Developmental Delay ◽  
Dysmorphic Features ◽  
Reduced Penetrance
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