Biomaterial Database

Interstitial deletion of chromosome 22 in a patient with the DiGeorge malformation sequence. 1989

J T Mascarello, and J F Bastian, and M C Jones

Genetic Services, Children's Hospital--San Diego, California.

We describe a chromosome 22 deletion in a patient with the DiGeorge malformation sequence as manifested by an interrupted aortic arch, mild thymic hypoplasia, and minor craniofacial anomalies. Although others have reported DiGeorge sequence patients with deletions derived from unbalanced translocations involving the chromosome 22 long arm, the small interstitial deletion described here appears to be unusual for patients with this disorder.

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
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
D002871	Chromosome Banding	Staining of bands, or chromosome segments, allowing the precise identification of individual chromosomes or parts of chromosomes. Applications include the determination of chromosome rearrangements in malformation syndromes and cancer, the chemistry of chromosome segments, chromosome changes during evolution, and, in conjunction with cell hybridization studies, chromosome mapping.	Banding, Chromosome,Bandings, Chromosome,Chromosome Bandings
D002872	Chromosome Deletion	Actual loss of portion of a chromosome.	Monosomy, Partial,Partial Monosomy,Deletion, Chromosome,Deletions, Chromosome,Monosomies, Partial,Partial Monosomies
D002892	Chromosomes, Human, Pair 22	A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.	Chromosome 22
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
D005147	Facial Bones	The facial skeleton, consisting of bones situated between the cranial base and the mandibular region. While some consider the facial bones to comprise the hyoid (HYOID BONE), palatine (HARD PALATE), and zygomatic (ZYGOMA) bones, MANDIBLE, and MAXILLA, others include also the lacrimal and nasal bones, inferior nasal concha, and vomer but exclude the hyoid bone. (Jablonski, Dictionary of Dentistry, 1992, p113)	Bone, Facial,Bones, Facial,Facial Bone
D005260	Female		Females
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man