Literature DB >> 3314667

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

G Schwanitz1, K Zerres.   

Abstract

The case of a neonate with clinical symptoms of DiGeorge syndrome is reported. During pregnancy the measurements by ultrasonography revealed already a significant growth retardation of the fetus, for the first time obvious in the 20th week. The child died immediately after birth. A de novo translocation X/22 was observed with the translocation chromosome being late replicating in all mitoses analysed. The own observation is discussed regarding other cases with DiGeorge syndrome and taking the differential diagnoses into account. count.

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Year:  1987        PMID： 3314667

Source DB:  PubMed          Journal:  Ann Genet        ISSN： 0003-3995


  6 in total

1.  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

2.  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

3.  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

4.  Immunodeficiency in patients with 49,XXXXY chromosomal variation.

Authors:  Michael D Keller; Teresa Sadeghin; Carole Samango-Sprouse; Jordan S Orange
Journal:  Am J Med Genet C Semin Med Genet       Date:  2013-01-23       Impact factor: 3.908

Review 5.  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

6.  DiGeorge syndrome with isolated aortic coarctation and isolated ventricular septal defect in three sibs with a 22q11 deletion of maternal origin.

Authors:  D I Wilson; I E Cross; J A Goodship; S Coulthard; A H Carey; P J Scambler; H H Bain; A S Hunter; P E Carter; J Burn
Journal:  Br Heart J       Date:  1991-10
  6 in total

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