Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 A deletion in chromosome 22 can cause DiGeorge syndrome.

Literature DB >> 7250965

A deletion in chromosome 22 can cause DiGeorge syndrome.

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

Abstract

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.

Entities: Disease

Mesh：

Year: 1981 PMID： 7250965 DOI： 10.1007/bf00278938

Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132

16 in total

1. Physical and mental defect of chromosomal origin in four individuals of the same family. Trisomy for the short arm of 9.

Authors: C E Blank; D C Colver; A M Potter; J McHugh; J Lorber
Journal: Clin Genet Date: 1975-04 Impact factor: 4.438

Review 2. Report of the committee on the genetic constitution of chromosomes 13, 14, 15, 16, 17, 18, 19, 20, 21, and 22.

Authors: M A Ferguson-Smith; A Westerveld
Journal: Cytogenet Cell Genet Date: 1979

3. Monosomy of chromosome No. 22. A case report.

Authors: F DeCicco; M W Steele; S Pan; S C Park
Journal: J Pediatr Date: 1973-11 Impact factor: 4.406

4. Foetal thymic transplant in a case of Digeorge's syndrome.

Authors: W W Cleveland; B J Fogel; W T Brown; H E Kay
Journal: Lancet Date: 1968-12-07 Impact factor: 79.321

5. Transmission of a balanced homologous t(22q;22q) translocation from mother to normal daughter.

Authors: C G Palmer; S Schwartz; M E Hodes
Journal: Clin Genet Date: 1980-06 Impact factor: 4.438

6. Familial third and fourth pharyngeal pouch syndrome with truncus arteriosus: DiGeorge syndrome.

Authors: M Raatikka; J Rapola; L Tuuteri; I Louhimo; E Savilahti
Journal: Pediatrics Date: 1981-02 Impact factor: 7.124

7. Familial thymic aplasia with intrauterine growth retardation and fetal death: a new syndrome or a variant of DiGeorge syndrome.

Authors: M K Shepard; S K Linman; A Cavazos
Journal: Birth Defects Orig Artic Ser Date: 1976

8. The spectrum of the DiGeorge syndrome.

Authors: M E Conley; J B Beckwith; J F Mancer; L Tenckhoff
Journal: J Pediatr Date: 1979-06 Impact factor: 4.406

9. Chromosome deletion and multiple cartilaginous exostoses.

Authors: E M Bühler; U K Bühler; G R Stalder; L Jani; L P Jurik
Journal: Eur J Pediatr Date: 1980-03 Impact factor: 3.183

10. Muscular dystrophy in an X; 1 translocation female suggests that Duchenne locus is on X chromosome short arm.

Authors: R H Lindenbaum; G Clarke; C Patel; M Moncrieff; J T Hughes
Journal: J Med Genet Date: 1979-10 Impact factor: 6.318

89 in total

1. Clustered 11q23 and 22q11 breakpoints and 3:1 meiotic malsegregation in multiple unrelated t(11;22) families.

Authors: T H Shaikh; M L Budarf; L Celle; E H Zackai; B S Emanuel
Journal: Am J Hum Genet Date: 1999-12 Impact factor: 11.025

2. A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11.

Authors: D A Driscoll; M L Budarf; B S Emanuel
Journal: Am J Hum Genet Date: 1992-05 Impact factor: 11.025

3. A prospective cytogenetic study of 36 cases of DiGeorge syndrome.

Authors: D I Wilson; I E Cross; J A Goodship; J Brown; P J Scambler; H H Bain; J F Taylor; K Walsh; A Bankier; J Burn
Journal: Am J Hum Genet Date: 1992-11 Impact factor: 11.025

Review 4. Molecular genetics of mineral metabolic disorders.

Authors: R V Thakker
Journal: J Inherit Metab Dis Date: 1992 Impact factor: 4.982

Review 5. Gene mapping of mineral metabolic disorders.

Authors: R V Thakker; K E Davies; J L O'Riordan
Journal: J Inherit Metab Dis Date: 1989 Impact factor: 4.982

6. Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients.

Authors: C Carlson; H Sirotkin; R Pandita; R Goldberg; J McKie; R Wadey; S R Patanjali; S M Weissman; K Anyane-Yeboa; D Warburton; P Scambler; R Shprintzen; R Kucherlapati; B E Morrow
Journal: Am J Hum Genet Date: 1997-09 Impact factor: 11.025

7. Two sibs with Wolf-Hirschhorn and DiGeorge deletions resulting from an unbalanced chromosome rearrangement, 45,XX/XY, der(4)t(4;22) (p16.3;q11.2) mat,-22.

Authors: K S Reddy; V Sulcova; B Siassi
Journal: J Med Genet Date: 1996-10 Impact factor: 6.318