Literature DB >> 33732667

Case Report: Clinical Description of a Patient Carrying a 12.48 Mb Microdeletion Involving the 10p13-15.3 Region.

Yu-Qing Pan1, Jian-Hua Fu1.   

Abstract

Partial deletion of 10p chromosome is a rare chromosomal aberration. Submicroscopic deletion of 10p15.3 is mainly related to cognitive deficits, speech disorders, motor delay, and hypotonia with the deleted region ranging from 0.15 to 4 Mb. The clinical phenotype is mainly determined by the ZMYND11 and DIP2C genes. Here, we report a rare case of feeding difficulties, hypocalcemia, and psychomotor retardation. Our patient has a 12.48 Mb deletion in 10p15.3-10p13, which is the second case of large 10p deletion among reported cases thus far.
Copyright © 2021 Pan and Fu.

Entities:  

Keywords:  10p deletion; copy number variation; feeding difficulty; hypocalcemia; psychomotor retardation

Year:  2021        PMID: 33732667      PMCID: PMC7959834          DOI: 10.3389/fped.2021.603666

Source DB:  PubMed          Journal:  Front Pediatr        ISSN: 2296-2360            Impact factor:   3.418


  27 in total

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Journal:  Nature       Date:  2000-07-27       Impact factor: 49.962

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3.  Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome.

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Journal:  J Hum Genet       Date:  2019-07-23       Impact factor: 3.172

4.  A new familial case of microdeletion syndrome 10p15.3.

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Journal:  Medicine (Baltimore)       Date:  2011-01       Impact factor: 1.889

6.  Cleft lip/palate, short stature, and developmental delay in a boy with a 5.6-mb interstitial deletion involving 10p15.3p14.

Authors:  Bruno F Gamba; Carla Rosenberg; Silvia Costa; Antonio Richieri-Costa; Lucilene A Ribeiro-Bicudo
Journal:  Mol Syndromol       Date:  2015-01-22

7.  Copy number variation sequencing for comprehensive diagnosis of chromosome disease syndromes.

Authors:  Desheng Liang; Ying Peng; Weigang Lv; Linbei Deng; Yanghui Zhang; Haoxian Li; Pu Yang; Jianguang Zhang; Zhuo Song; Genming Xu; David S Cram; Lingqian Wu
Journal:  J Mol Diagn       Date:  2014-07-03       Impact factor: 5.568

8.  Fast and accurate short read alignment with Burrows-Wheeler transform.

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Journal:  Bioinformatics       Date:  2009-05-18       Impact factor: 6.937

9.  A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotonia.

Authors:  Abby M Moskowitz; Newell Belnap; Ashley L Siniard; Szabolcs Szelinger; Ana M Claasen; Ryan F Richholt; Matt De Both; Jason J Corneveaux; Chris Balak; Ignazio S Piras; Megan Russell; Amanda L Courtright; Sampath Rangasamy; Keri Ramsey; David W Craig; Vinodh Narayanan; Matt J Huentelman; Isabelle Schrauwen
Journal:  Cold Spring Harb Mol Case Stud       Date:  2016-09
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