Literature DB >> 2614798

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

M R Pinto1, R P Leite, A Areias.   

Abstract

We describe the clinical and cytogenetic findings in an infant who presented with the features of both Turner's and DiGeorge's syndromes associated with a unique translocation between chromosomes X and 22.

Entities:  

Mesh：

Year:  1989        PMID： 2614798      PMCID： PMC1015761          DOI： 10.1136/jmg.26.12.778

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


  5 in total

1.  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

Review 2.  Partial monosomy 22 as result of an X/22 translocation in a newborn with DiGeorge syndrome.

Authors:  G Schwanitz; K Zerres
Journal:  Ann Genet       Date:  1987

3.  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

4.  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

5.  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
  5 in total
  4 in total

1.  Features of Turner's and DiGeorge's syndromes with X;22 translocation.

Authors:  S Gilgenkrantz; M Teboul
Journal:  J Med Genet       Date:  1990-12       Impact factor: 6.318

2.  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

3.  Dual diagnoses in 152 patients with Turner syndrome: Knowledge of the second condition may lead to modification of treatment and/or surveillance.

Authors:  Kelly L Jones; Erin A McNamara; Mauro Longoni; Danny E Miller; Mersedeh Rohanizadegan; Laura A Newman; Frances Hayes; Lynne L Levitsky; Betty L Herrington; Angela E Lin
Journal:  Am J Med Genet A       Date:  2018-08-06       Impact factor: 2.802

Review 4.  Excess of deletions of maternal origin in the DiGeorge/velo-cardio-facial syndromes. A study of 22 new patients and review of the literature.

Authors:  S Demczuk; A Lévy; M Aubry; M F Croquette; N Philip; M Prieur; U Sauer; P Bouvagnet; G A Rouleau; G Thomas
Journal:  Hum Genet       Date:  1995-07       Impact factor: 4.132
  4 in total

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