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

2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial features

2011 ◽  
Vol 155 (2) ◽  
pp. 424-429 ◽  
Author(s):  
Brian H.Y. Chung ◽  
James Stavropoulos ◽  
Christian R. Marshall ◽  
Rosanna Weksberg ◽  
Stephen W. Scherer ◽  
...  
Keyword(s):  
Developmental Delay ◽  
De Novo ◽  
Facial Features

scholarly journals De novo triplication of 11q12.3 in a patient with developmental delay and distinctive facial features

2013 ◽  
Vol 6 (1) ◽  
pp. 15 ◽  
Author(s):  
Toshiyuki Yamamoto ◽  
Mari Matsuo ◽  
Shino Shimada ◽  
Noriko Sangu ◽  
Keiko Shimojima ◽  
...  
Keyword(s):  
Developmental Delay ◽  
De Novo ◽  
Facial Features

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 Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features

2015 ◽  
Vol 18 (8) ◽  
pp. 788-795 ◽  
Author(s):  
Jessica X. Chong ◽  
◽  
Joon-Ho Yu ◽  
Peter Lorentzen ◽  
Karen M. Park ◽  
...  
Keyword(s):  
Social Networking ◽  
Developmental Delay ◽  
De Novo ◽  
Gene Discovery ◽  
Facial Features

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.

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