The recurrent distal 22q11.2 microdeletions are often de novo and do not represent a single clinical entity: a proposed categorization system | Zendy

Fady M. Mikhail | Zendy; Rachel D. Burnside | Zendy; Brooke Rush | Zendy; Jennifer Ibrahim | Zendy; Robin Godshalk | Zendy; S. Lane Rutledge | Zendy; Nathaniel H. Robin | Zendy; Maria Descartes | Zendy; Andrew J. Carroll | Zendy

Open Access

The recurrent distal 22q11.2 microdeletions are often de novo and do not represent a single clinical entity: a proposed categorization system

Author(s) -

Fady M. Mikhail,

Rachel D. Burnside,

Brooke Rush,

Jennifer Ibrahim,

Robin Godshalk,

S. Lane Rutledge,

Nathaniel H. Robin,

Maria Descartes,

Andrew J. Carroll

Publication year - 2013

Publication title -

genetics in medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.509

H-Index - 128

eISSN - 1530-0366

pISSN - 1098-3600

DOI - 10.1038/gim.2013.79

Subject(s) - digeorge syndrome , phenotype , microdeletion syndrome , deletion syndrome , genetics , chromosome , clinical phenotype , medicine , biology , gene

The five segmental duplications (LCR22-D to -H) at the distal region of chromosome 22 band q11.2 in the region immediately distal to the DiGeorge/velocardiofacial syndrome deleted region have been implicated in the recurrent distal 22q11.2 microdeletions. To date, the distal 22q11.2 microdeletions have been grouped together as a single clinical entity despite the fact that these deletions are variable in size and position depending on the mediating LCR22s.

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