Literature DB >> 1415264

A prospective cytogenetic study of 36 cases of DiGeorge syndrome.

D I Wilson1, I E Cross, J A Goodship, J Brown, P J Scambler, H H Bain, J F Taylor, K Walsh, A Bankier, J Burn.   

Abstract

Cytogenetic analysis was carried out in a prospective series of 36 children with DiGeorge syndrome. High-resolution banding (> 850 bands/haploid set) was achieved in 30 cases. Monosomy 22q11.21-->q11.23 was found in 9 of these 30 cases. In each of these cases monosomy 22q11.21-->q11.23 resulted from an interstitial deletion and not from a translocation. No other chromosome abnormalities were seen.

Entities:  

Mesh：

Year:  1992        PMID： 1415264      PMCID： PMC1682842     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  23 in total

1.  DiGeorge anomaly associated with 10p deletion.

Authors:  G Monaco; C Pignata; E Rossi; O Mascellaro; S Cocozza; F Ciccimarra
Journal:  Am J Med Genet       Date:  1991-05-01

2.  Hypoparathyroidism and T cell immune defect in a patient with 10p deletion syndrome.

Authors:  F Greenberg; C Valdes; H M Rosenblatt; J L Kirkland; D H Ledbetter
Journal:  J Pediatr       Date:  1986-09       Impact factor: 4.406

3.  Features of di George syndrome in a child with 45,XX,-3,-22,+der(3),t(3;22)(p25;q11).

Authors:  M J Faed; J Robertson; J S Beck; J I Cater; B Bose; M M Madlom
Journal:  J Med Genet       Date:  1987-04       Impact factor: 6.318

4.  Inherited partial trisomy 8q (22 leads to qter).

Authors:  P L Townes; M R White
Journal:  Am J Dis Child       Date:  1978-05

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

Authors:  J T Mascarello; J F Bastian; M C Jones
Journal:  Am J Med Genet       Date:  1989-01

6.  A deletion in chromosome 22 can cause DiGeorge syndrome.

Authors:  A de la Chapelle; R Herva; M Koivisto; P Aula
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

7.  Familial DiGeorge syndrome and associated partial monosomy of chromosome 22.

Authors:  F Greenberg; W E Crowder; V Paschall; J Colon-Linares; B Lubianski; D H Ledbetter
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

8.  Cytogenetic findings in a prospective series of patients with DiGeorge anomaly.

Authors:  F Greenberg; F F Elder; P Haffner; H Northrup; D H Ledbetter
Journal:  Am J Hum Genet       Date:  1988-11       Impact factor: 11.025

9.  The association of the DiGeorge anomalad with partial monosomy of chromosome 22.

Authors:  R I Kelley; E H Zackai; B S Emanuel; M Kistenmacher; F Greenberg; H H Punnett
Journal:  J Pediatr       Date:  1982-08       Impact factor: 4.406

10.  Thymus deficiency in an infant with a chromosome t(18;22)(q12.2;p11.2)pat rearrangement.

Authors:  P Bowen; H Pabst; D Berry; R Collins-Nakai; J J Hoo
Journal:  Clin Genet       Date:  1986-02       Impact factor: 4.438
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  22 in total

1.  Velocardiofacial syndrome presenting as distal arthrogryposis.

Authors:  Koen Devriendt; Ann Swillen; Marc Gewillig; Jean-Pierre Fryns; Pierre Moens; Luc De Smet
Journal:  Eur J Pediatr       Date:  2004-06       Impact factor: 3.183

2.  Heterotaxia syndromes and 22q11 deletion.

Authors:  B Marino; M C Digilio; A Giannotti; B Dallapiccola
Journal:  J Med Genet       Date:  1996-12       Impact factor: 6.318

3.  Longitudinal analysis of lymphocyte function and numbers in the first year of life in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).

Authors:  K E Sullivan; D McDonald-McGinn; D A Driscoll; B S Emanuel; E H Zackai; A F Jawad
Journal:  Clin Diagn Lab Immunol       Date:  1999-11

Review 4.  Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders.

Authors:  N Tommerup
Journal:  J Med Genet       Date:  1993-09       Impact factor: 6.318

5.  Recurrence of DiGeorge syndrome: prenatal detection by FISH of a molecular 22q11 deletion.

Authors:  J O Van Hemel; C Schaap; D Van Opstal; M P Mulder; M F Niermeijer; J H Meijers
Journal:  J Med Genet       Date:  1995-08       Impact factor: 6.318

6.  22q11 deletions in isolated and syndromic patients with tetralogy of Fallot.

Authors:  F Amati; A Mari; M C Digilio; R Mingarelli; B Marino; A Giannotti; G Novelli; B Dallapiccola
Journal:  Hum Genet       Date:  1995-05       Impact factor: 4.132

7.  Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11.

Authors:  J Burn; A Takao; D Wilson; I Cross; K Momma; R Wadey; P Scambler; J Goodship
Journal:  J Med Genet       Date:  1993-10       Impact factor: 6.318

8.  Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis.

Authors:  D A Driscoll; J Salvin; B Sellinger; M L Budarf; D M McDonald-McGinn; E H Zackai; B S Emanuel
Journal:  J Med Genet       Date:  1993-10       Impact factor: 6.318

9.  Diagnosis of DiGeorge syndrome in nuclei released from archival autoptic heart specimens using fluorescence in situ hybridization.

Authors:  G Calabrese; R Mingarelli; P Francalanci; R Boldrini; G Palka; C Bosman; G Novelli; B Dallapiccola
Journal:  Hum Genet       Date:  1996-04       Impact factor: 4.132

10.  microRNAs and genetic diseases.

Authors:  Nicola Meola; Vincenzo Alessandro Gennarino; Sandro Banfi
Journal:  Pathogenetics       Date:  2009-11-04
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