A patient with a de novo 15q24q26.1 interstitial deletion, developmental delay, mild dysmorphism, and very blue irises

2004 ◽  
Vol 129A (3) ◽  
pp. 312-315 ◽  
Author(s):  
L. Spruijt ◽  
J.J.M. Engelen ◽  
I.P. Bruinen-Smeijsters ◽  
J.C.M. Albrechts ◽  
J. Schrander ◽  
...  
Keyword(s):  
Developmental Delay ◽  
De Novo ◽  
Interstitial Deletion

scholarly journals De Novo Interstitial Deletion of 9q in a Pediatric Patient With Global Developmental Delay

2019 ◽  
Vol 6 ◽  
pp. 2329048X1984492
Author(s):  
Dennis Keselman ◽  
Ram Singh ◽  
Ninette Cohen ◽  
Zipora Fefer
Keyword(s):  
Developmental Delay ◽  
De Novo ◽  
Snp Array ◽  
Interstitial Deletion ◽  
Global Developmental Delay ◽  
Comparative Genomic ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Basal Cell Nevus Syndrome ◽  
Ptch1 Gene

Cytogenomic microarray (CMA) methodologies, including array comparative genomic hybridization (aCGH) and single-nucleotide polymorphism-detecting arrays (SNP-array), are recommended as the first-tier test for the evaluation of imbalances associated with intellectual disability, autism, and multiple congenital anomalies. The authors report on a child with global developmental delay (GDD) and a de novo interstitial 7.0 Mb deletion of 9q21.33q22.31 detected by aCGH. The patient that the authors report here is noteworthy in that she presented with GDD and her interstitial deletion is not inclusive of the 9q22.32 locus that includes the PTCH1 gene, which is implicated in Gorlin syndrome, or basal cell nevus syndrome (BCNS), has not been previously reported among patients with a similar or smaller size of the deletion in this locus suggesting that the genomic contents in the identified deletion on 9q21.33q22.31 is critical for the phenotype.

A de novo interstitial deletion of 8p11.2 including ANK1 identified in a patient with spherocytosis, psychomotor developmental delay, and distinctive facial features

Gene ◽  
2012 ◽  
Vol 506 (1) ◽  
pp. 146-149 ◽  
Author(s):  
Kazushi Miya ◽  
Keiko Shimojima ◽  
Midori Sugawara ◽  
Shino Shimada ◽  
Hiroyuki Tsuri ◽  
...  
Keyword(s):  
Developmental Delay ◽  
De Novo ◽  
Interstitial Deletion ◽  
Facial Features

scholarly journals A de novo 2.9 Mb interstitial deletion at 13q12.11 in a child with developmental delay accompanied by mild dysmorphic characteristics

2014 ◽  
Vol 7 (1) ◽  
Author(s):  
Magdalini Lagou ◽  
Ioannis Papoulidis ◽  
Sandro Orru ◽  
Vasileios Papadopoulos ◽  
George Daskalakis ◽  
...  
Keyword(s):  
Developmental Delay ◽  
De Novo ◽  
Interstitial Deletion

scholarly journals Bilateral Radial Ulnar Synostosis and Vertebral Anomalies in a Child with aDe Novo16p13.3 Interstitial Deletion

2013 ◽  
Vol 2013 ◽  
pp. 1-4
Author(s):  
Allison Tam ◽  
Kit Shan Lee ◽  
Sansan Lee ◽  
William Burkhalter ◽  
Lucio U. Pascua ◽  
...  
Keyword(s):  
Developmental Delay ◽  
De Novo ◽  
Regulatory Elements ◽  
Interstitial Deletion ◽  
Vertebral Deformities ◽  
Skeletal Formation ◽  
Vertebral Anomalies ◽  
Specific Deletion

We describe an 8-year-old boy with developmental delay, clinical bilateral radial ulnar synostosis, Klippel-Feil anomaly, and other vertebral deformities who was found to have ade novodeletion of 114.5kb at 16p13.3. The deletion contains five genes and three miRNAs. The genes areE4F1, DNASE1L2, ECI1, RNPS1, andABCA3; miRNAs are MIR3677, MIR940, and MIR4717. The specific deletion has never been previously reported. We describe the phenotype of the boy and review the genes in the deleted region. None of the regulatory elements have any known linkage to skeletal formation and/or maintenance. We believe this deletion is causative given that it wasde novoand that this patient cannot be easily explained as having any other specific recognizable pattern of human malformation.

scholarly journals Interstitial 14q31.3-q32.13 deletion

2019 ◽  
Vol 2 (1) ◽  
pp. 48-51 ◽  
Author(s):  
Kristina Crkvenac Gornik ◽  
Ivana Tonkovic Durisevic ◽  
Anita Pokupec Bilic ◽  
Sanda Huljev Frkovic
Keyword(s):  
Developmental Delay ◽  
Array Cgh ◽  
De Novo ◽  
Ring Chromosome ◽  
Interstitial Deletion ◽  
Molecular Karyotyping ◽  
Chromosome 14 ◽  
Case Presentation ◽  
Breakpoint Determination ◽  
Chromosome 14Q

Aim: With the exception of ring chromosome 14 or translocations, interstitial deletions of the long arm of chromosome 14 are very rare. All patients with these deletions share common phenotypic characteristics, primarily mild dysmorphia and developmental delay. Molecular karyotyping (array CGH) enabled the precise breakpoint determination and improved the analysis of genotype-phenotype correlations. Case presentation: In a 7-year-old girl, array CGH was performed due to developmental delay. The array CGH study showed 8.3Mb de novo interstitial deletion of the 14q31.3–q32.13 region. Conclusions: Comparison of our patient´s phenotype with previously reported chromosome 14q interstitial deletion cases confirmed the presence of common clinical features and highlights the utility of array CGH as a diagnostic tool in clarifying the developmental delay etiology.

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