Biomaterial Database

A deletion in chromosome 22 can cause DiGeorge syndrome. 1981

A de la Chapelle, and R Herva, and M Koivisto, and P Aula

An association between DiGeorge's syndrome and an unbalanced chromosomal rearrangement leading to trisomy 20pter leads to 20q11 and monosomy 22pter leads to 22q11 was found in four individuals belongings to one family. These and other data from the literature are interpreted to suggest that DiGeorge's syndrome can be caused by deletion of a gene located in chromosome 22, probably in band 22q11.

UI	MeSH Term	Description	Entries
D007153	Immunologic Deficiency Syndromes	Syndromes in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.	Antibody Deficiency Syndrome,Deficiency Syndrome, Immunologic,Deficiency Syndromes, Antibody,Deficiency Syndromes, Immunologic,Immunologic Deficiency Syndrome,Immunological Deficiency Syndromes,Antibody Deficiency Syndromes,Deficiency Syndrome, Antibody,Deficiency Syndrome, Immunological,Deficiency Syndromes, Immunological,Immunological Deficiency Syndrome,Syndrome, Antibody Deficiency,Syndrome, Immunologic Deficiency,Syndrome, Immunological Deficiency,Syndromes, Antibody Deficiency,Syndromes, Immunologic Deficiency,Syndromes, Immunological Deficiency
D007223	Infant	A child between 1 and 23 months of age.	Infants
D007231	Infant, Newborn	An infant during the first 28 days after birth.	Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D007621	Karyotyping	Mapping of the KARYOTYPE of a cell.	Karyotype Analysis Methods,Analysis Method, Karyotype,Analysis Methods, Karyotype,Karyotype Analysis Method,Karyotypings,Method, Karyotype Analysis,Methods, Karyotype Analysis
D008297	Male		Males
D002675	Child, Preschool	A child between the ages of 2 and 5.	Children, Preschool,Preschool Child,Preschool Children
D002872	Chromosome Deletion	Actual loss of portion of a chromosome.	Monosomy, Partial,Partial Monosomy,Deletion, Chromosome,Deletions, Chromosome,Monosomies, Partial,Partial Monosomies
D002903	Chromosomes, Human, 19-20	The short, metacentric human chromosomes, called group F in the human chromosome classification. This group consists of chromosome pairs 19 and 20.	Chromosomes F,Group F Chromosomes,Chromosome, Group F,Chromosomes, Group F,Group F Chromosome
D002904	Chromosomes, Human, 21-22 and Y	The short, acrocentric human chromosomes, called group G in the human chromosome classification. This group consists of chromosome pairs 21 and 22 and the Y chromosome.	Chromosomes G,Group G Chromosomes,Chromosomes, Human, 21 22,Chromosomes, Human, 21-22,Chromosome, Group G,Chromosomes, Group G,Group G Chromosome
D004062	DiGeorge Syndrome	Congenital syndrome characterized by a wide spectrum of characteristics including the absence of the THYMUS and PARATHYROID GLANDS resulting in T-cell immunodeficiency, HYPOCALCEMIA, defects in the outflow tract of the heart, and craniofacial anomalies.	Velocardiofacial Syndrome,22q11.2 Deletion Syndrome,22q11.2DS,Autosomal Dominant Opitz G-Bbb Syndrome,Catch22,Conotruncal Anomaly Face Syndrome,Conotruncal Anomaly Face Syndrome (CTAF),Deletion 22q11.2 Syndrome,DiGeorge Anomaly,DiGeorge Sequence,Familial Third and Fourth Pharyngeal Pouch Syndrome,Hypoplasia of Thymus and Parathyroids,Pharyngeal Pouch Syndrome,Sedlackova Syndrome,Shprintzen Syndrome,Shprintzen VCF Syndrome,Third and Fourth Pharyngeal Pouch Syndrome,Thymic Aplasia Syndrome,VCF Syndrome,Velo-Cardio-Facial Syndrome,Autosomal Dominant Opitz G Bbb Syndrome,Deletion Syndrome, 22q11.2,Syndrome, DiGeorge,Syndrome, Sedlackova,Syndrome, Shprintzen,Syndrome, VCF,Syndrome, Velo-Cardio-Facial,Syndrome, Velocardiofacial,Velo Cardio Facial Syndrome