منابع مشابه
The 22q11.2 deletion syndrome.
The 22q11.2 deletion syndrome (22q11DS) encompasses DiGeorge syndrome, velo-cardio-facial syndrome and conotruncal anomaly face syndrome and is due to a microdeletion of chromosome 22q11.2. This is the most frequent known interstitial deletion found in human with an incidence of 1 in 4,000 live births. A large number of clinical findings have been reported in affected patients, including cardia...
متن کامل22q11.2 Deletion Syndrome
In 1965 DiGeorge described a patient with hypoparathyroidism and cellular immune deficiency secondary to thymic hypoplasia. Soon the pattern of malformation included in this syndrome expanded to include other defects of third and fourth branchial arches as well as dysmorphic facial features. In 1978 Shprintzen reported a group of children with cleft palate or velopharyngeal incompetence, cardia...
متن کامل22q11.2 Deletion Syndrome
In 1965 DiGeorge described a patient with hypoparathyroidism and cellular immune deficiency secondary to thymic hypoplasia. Soon the pattern of malformation included in this syndrome expanded to include other defects of third and fourth branchial arches as well as dysmorphic facial features. In 1978 Shprintzen reported a group of children with cleft palate or velopharyngeal incompetence, cardia...
متن کاملThe 13q- deletion syndrome.
Since 1963 intermittent reports have appeared which indicated that deletion of a D chromosome, with or without ring formation, could be associated with various congenital malformations (Bain and Gauld, 1963; Lele, Penrose, and Stallard, 1963; Thompson and Lyons, 1965; Jacobsen, 1966; van Kempen, 1966; Bloom, Gerald, and Reisman, 1967, Gerald et al, 1967; Juberg et al, 1969; Laurent et al, 1967;...
متن کامل22q11.2 Deletion Syndrome
In 1965 DiGeorge described a patient with hypoparathyroidism and cellular immune deficiency secondary to thymic hypoplasia. Soon the pattern of malformation included in this syndrome expanded to include other defects of third and fourth branchial arches as well as dysmorphic facial features. In 1978 Shprintzen reported a group of children with cleft palate or velopharyngeal incompetence, cardia...
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ژورنال
عنوان ژورنال: Orphanet Journal of Rare Diseases
سال: 2008
ISSN: 1750-1172
DOI: 10.1186/1750-1172-3-14