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22q11 Deletion Syndrome

22q11.2 deletion syndrome, also known as DiGeorge syndrome, is a congenital disorder caused by a partial deletion of chromosome 22. Symptoms include heart defects, poor immune system function, a cleft palate, complications related to low levels of calcium in the blood, and delayed development. Discover the latest research on this disease here.

Birth Defects

Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.

Severe laryngomalacia and bronchomalacia in DiGeorge syndrome and CHARGE association

Abstract

References

The spectrum of the DiGeorge syndrome

Regionally restricted developmental defects resulting from targeted disruption of the mouse homeobox gene hox-1.5.

Age-related changes in human blood lymphocyte subpopulations.

The spectrum of clinical features in CHARGE syndrome

The DiGeorge syndrome. I. Clinical evaluation and course of partial and complete forms of the syndrome

Embryologic and other developmental considerations of thirty-eight possible variants of the DiGeorge anomaly

Fetal alcohol syndrome and DiGeorge anomaly: critical ethanol exposure periods for craniofacial malformations as illustrated in an animal model

Ossification centre of the hyoid bone in DiGeorge syndrome and tetralogy of Fallot

Abnormal growth of the thyroid cartilage in the DiGeorge syndrome

Short trachea, with reduced number of cartilage rings--a hitherto unrecognized feature of DiGeorge syndrome

Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association

A common region of 10p deleted in DiGeorge and velocardiofacial syndromes

Autosomal dominant "Opitz" GBBB syndrome due to a 22q11.2 deletion

Use of an image orthicon as an array of lock-in amplifiers

Citations

Esophageal atresia and tracheo-esophageal fistula associated with coarctation of the aorta, CHARGE association, and DiGeorge syndrome: a case report and literature review.

Esophageal atresia and tracheo-esophageal fistula in a patient with Digeorge syndrome

Practice parameter for the diagnosis and management of primary immunodeficiency