A de novo interstitial deletion of 7q31.2q31.31 identified in a girl with developmental delay and hearing loss

2016 ◽  
Vol 172 (2) ◽  
pp. 102-108
Author(s):  
Jianhua Zhao ◽  
Sarah E. Noon ◽  
Ian D. Krantz ◽  
Yaning Wu
Keyword(s):  
Hearing Loss ◽  
Developmental Delay ◽  
De Novo ◽  
Interstitial Deletion

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 A novel de novo CAPN5 mutation in a patient with inflammatory vitreoretinopathy, hearing loss, and developmental delay

2018 ◽  
Vol 4 (3) ◽  
pp. a002519 ◽  
Author(s):  
Gabriel Velez ◽  
Alexander G. Bassuk ◽  
Kellie A. Schaefer ◽  
Brian Brooks ◽  
Lokesh Gakhar ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Developmental Delay ◽  
De Novo

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

Novel de novo interstitial deletion in 2q36.1q36.3 causes syndromic hearing loss and further delineation of the 2q36 deletion syndrome

2019 ◽  
Vol 139 (10) ◽  
pp. 870-875
Author(s):  
Jing Guan ◽  
Linwei Yin ◽  
Hongyang Wang ◽  
Guohui Chen ◽  
Cui Zhao ◽  
...  
Keyword(s):  
Hearing Loss ◽  
De Novo ◽  
Interstitial Deletion ◽  
Deletion Syndrome ◽  
Syndromic Hearing Loss

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
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