scholarly journals Macrocerebellum, epilepsy, intellectual disability, and gut malrotation in a child with a 16q24.1-q24.2 contiguous gene deletion

2014 ◽  
Vol 164 (8) ◽  
pp. 2062-2068 ◽  
Author(s):  
Andrea H. Seeley ◽  
Mark A. Durham ◽  
Mark A. Micale ◽  
Jeffrey Wesolowski ◽  
Bradley R. Foerster ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Gene Deletion ◽  
Contiguous Gene

The Largest Germline Heterozygous Deletion Encompassing Potocki–Shaffer and WAGR Syndromes Loci to Date: A Case Report

2021 ◽  
Author(s):  
Geoffroy Delplancq ◽  
Mohamed Abdelatif Boukebir ◽  
Daniel Amsallem ◽  
Laurent Thines ◽  
Virginie Rozé ◽  
...  
Keyword(s):  
Case Report ◽  
Intellectual Disability ◽  
High Resolution ◽  
Array Comparative Genomic Hybridization ◽  
Gene Deletion ◽  
Comparative Genomic ◽  
Prenatal Period ◽  
Heterozygous Deletion ◽  
Multiple Exostoses ◽  
Contiguous Gene

AbstractPotocki–Schaffer syndrome includes multiple exostoses, parietal foramina, and variable developmental delay/intellectual disability. It is associated with a heterozygous deletion of the 11p12p11.2 region. In some cases, the deletion extends to the WAGR locus (11p13p12). We describe here a 9-month-old girl harboring the largest germline heterozygous deletion characterized so far. Oligohydramnios and parietal foramina were noticed during pregnancy. No patient has been diagnosed before with concomitance of these two syndromes during the prenatal period. Cytogenetic diagnosis was anticipated on basis of clinical and radiological signs. Postnatal conventional karyotype confirmed an interstitial 11p deletion: 46,XX,del(11)(p11.2p15.1). Array-comparative genomic hybridization characterized a 29.6 Mb deletion. Our case illustrates the interest of high-resolution genomic approaches to correlate adequately clinical phenotypes with specific genes in suspected contiguous gene deletion syndromes.

scholarly journals Contiguous gene deletion of chromosome 2p16.3-p21 as a cause of Lynch syndrome

2017 ◽  
Vol 17 (1) ◽  
pp. 71-77 ◽  
Author(s):  
Erin E. Salo-Mullen ◽  
Patricio B. Lynn ◽  
Lu Wang ◽  
Michael Walsh ◽  
Anuradha Gopalan ◽  
...  
Keyword(s):  
Lynch Syndrome ◽  
Gene Deletion ◽  
Contiguous Gene

scholarly journals Haploinsufficiency ofALX4as a Potential Cause of Parietal Foramina in the 11p11.2 Contiguous Gene–Deletion Syndrome

2000 ◽  
Vol 67 (5) ◽  
pp. 1327-1332 ◽  
Author(s):  
Yuan‐Qing Wu ◽  
Jose L. Badano ◽  
Christopher McCaskill ◽  
Hannes Vogel ◽  
Lorraine Potocki ◽  
...  
Keyword(s):  
Gene Deletion ◽  
Deletion Syndrome ◽  
Contiguous Gene ◽  
Contiguous Gene Deletion Syndrome

scholarly journals A Homozygous Contiguous Gene Deletion in Chromosome 16p13.3 Leads to Autosomal Recessive Osteopetrosis in a Jordanian Patient

2012 ◽  
Vol 91 (4) ◽  
pp. 250-254 ◽  
Author(s):  
Alessandra Pangrazio ◽  
Annalisa Frattini ◽  
Roberto Valli ◽  
Emanuela Maserati ◽  
Lucia Susani ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Gene Deletion ◽  
Contiguous Gene ◽  
Chromosome 16P13.3 ◽  
Autosomal Recessive Osteopetrosis

Novel contiguous gene deletion in peruvian girl with Trichothiodystrophy type 4 and glutaric aciduria type 3

2018 ◽  
Vol 61 (7) ◽  
pp. 388-392 ◽  
Author(s):  
Jorge La Serna-Infantes ◽  
Miguel Chávez Pastor ◽  
Milana Trubnykova ◽  
Félix Chavesta Velásquez ◽  
Flor Vásquez Sotomayor ◽  
...  
Keyword(s):  
Gene Deletion ◽  
Glutaric Aciduria Type ◽  
Glutaric Aciduria ◽  
Contiguous Gene ◽  
Type 3
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