A de novo Pericentric Inversion in Chromosome 4 Associated with Disruption of PITX2 and a Microdeletion in 4p15.2 in a Patient with Axenfeld-Rieger Syndrome and Developmental Delay

Publisher： Karger

E-ISSN： 1424-859x|151|1|5-9

ISSN： 1424-8581

Source： Cytogenetic and Genome Research, Vol.151, Iss.1, 2017-02, pp. : 5-9

Disclaimer: Any content in publications that violate the sovereignty, the constitution or regulations of the PRC is not accepted or approved by CNPIEC.

Previous Menu Next

Abstract

Related content

A Rare de novo Interstitial Duplication at 4p15.2 in a Boy with Severe Congenital Heart Defects, Limb Anomalies, Hypogonadism, and Global Developmental Delay

By  

Cytogenetic and Genome Research, Vol. 150, Iss. 2, 2016-12 ,pp. : 112-117

Karger

Access to resources Recommend Favorite

Cloning of the breakpoints of a de novo inversion of chromosome 8, inv (8)(p11.2q23.1) in a patient with Ambras syndrome

By  

Cytogenetic and Genome Research, Vol. 107, Iss. 1-2, 2004-08 ,pp. : 68-76

Karger

Access to resources Recommend Favorite

Ring Chromosome 9 and Chromosome 9p Deletion Syndrome in a Patient Associated with Developmental Delay: A Case Report and Review of the Literature

By  

Cytogenetic and Genome Research, Vol. 148, Iss. 2-3, 2016-05 ,pp. : 165-173

Karger

Access to resources Recommend Favorite

A distinctive phenotype associated with an interstitial deletion 6q14 contained within a de novo pericentric inversion 6 (p11.2q15)

By  

Cytogenetic and Genome Research, Vol. 91, Iss. 1-4, 2001-01 ,pp. : 192-198

Karger

Access to resources Recommend Favorite

An Interstitial 4q31.21q31.22 Microdeletion Associated with Developmental Delay: Case Report and Literature Review

By  

Cytogenetic and Genome Research, Vol. 142, Iss. 4, 2014-04 ,pp. : 227-238

Karger

Access to resources Recommend Favorite