Literature DB >> 3585938

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

M J Faed, J Robertson, J S Beck, J I Cater, B Bose, M M Madlom.   

Abstract

A child with an unbalanced translocation resulting in monosomy for chromosomes 22 (q11----pter) and 3(p25----pter) is described. Although no immunological dysfunction could be demonstrated, the abnormalities found are similar to those seen in the di George syndrome which has been associated with monosomy for the same region of chromosome 22.

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Year:  1987        PMID： 3585938      PMCID： PMC1050000          DOI： 10.1136/jmg.24.4.225

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  9 in total

1.  DiGeorge syndrome(s).

Authors:  H W Lischner
Journal:  J Pediatr       Date:  1972-11       Impact factor: 4.406

2.  Congenital cardiovascular disease and anomalies of the third and fourth pharyngeal pouch.

Authors:  R M Freedom; F S Rosen; A S Nadas
Journal:  Circulation       Date:  1972-07       Impact factor: 29.690

3.  Chromosome 3 duplication q21 leads to qter deletion p25 leads to pter syndrome in children of carriers of a pericentric inversion inv(3) (p25q21).

Authors:  P W Allderdice; N Browne; D P Murphy
Journal:  Am J Hum Genet       Date:  1975-11       Impact factor: 11.025

4.  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

5.  A second patient with partial deletion of the short arm of chromosome 3: karyotype 46,XY,del(3)(p25).

Authors:  M C Higginbottom; J T Mascarello; H Hassin; W K McCord
Journal:  J Med Genet       Date:  1982-02       Impact factor: 6.318

6.  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

7.  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

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.  A child with partial trisomy of chromosome 17 and partial monosomy of chromosome 3: 46,XY,der(3),t(3;17)(p25;q23).

Authors:  D J Shawe; C Fear; W J Appleyard
Journal:  J Med Genet       Date:  1983-10       Impact factor: 6.318
  9 in total
  13 in total

1.  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

2.  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

3.  Isolation of anonymous DNA markers for human chromosome 22q11 from a flow-sorted library, and mapping using hybrids from patients with DiGeorge syndrome.

Authors:  A M Sharkey; L McLaren; M Carroll; J Fantes; D Green; D Wilson; P J Scambler; H J Evans
Journal:  Hum Genet       Date:  1992-04       Impact factor: 4.132

4.  A Rare Case of Mosaic Unbalanced Non-Robertsonian Translocation Involving Chromosomes 15 and 22 with Congenital Abnormalities in Monozygotic Twins.

Authors:  Emine I Atli; Engin Atli; Sinem Yalcintepe; Hakan Gurkan
Journal:  Mol Syndromol       Date:  2019-12-21

5.  Features of Turner's and DiGeorge's syndromes in a child with an X;22 translocation.

Authors:  M R Pinto; R P Leite; A Areias
Journal:  J Med Genet       Date:  1989-12       Impact factor: 6.318

Review 6.  Microdeletion syndromes, balanced translocations, and gene mapping.

Authors:  A Schinzel
Journal:  J Med Genet       Date:  1988-07       Impact factor: 6.318

7.  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

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.  Molecular studies of DiGeorge syndrome.

Authors:  W J Fibison; M Budarf; H McDermid; F Greenberg; B S Emanuel
Journal:  Am J Hum Genet       Date:  1990-05       Impact factor: 11.025

10.  22q11.2 Deletion Syndrome due to a Translocation t(6;22) in a Patient Conceived via in vitro Fertilization.

Authors:  Anelisa Gollo Dantas; Adriana Bortolai; Mariana Moysés-Oliveira; Sylvia Takeno Herrero; Adriana Azoubel Antunes; Beatriz Tavares Costa-Carvalho; Vera Ayres Meloni; Maria Isabel Melaragno
Journal:  Mol Syndromol       Date:  2015-11-14
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