Literature DB >> 837568

A case report of a presumptive +i(18p) associated with serum IgA deficiency.

K Ogata, K Iinuma, K Kammura, R Morinaga, J Kato.   

Abstract

The case of a 4-month-old male infant with retarded psychomotor development and multiple anomalies is presented. Cytogenetic studies on peripheral blood and skin cultures revealed a normal male complement with a supernumerary small metacentric chromosome. According to its size and its banding patterns, the metacentric chromosome was postulated to be an isochromosome for the short arm of number 18. A deficiency of serum IgA was observed in this patient.

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Year:  1977        PMID： 837568     DOI： 10.1111/j.1399-0004.1977.tb01297.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  9 in total

Review 1.  Genetics of IgA deficiency and common variable immunodeficiency.

Authors:  H W Schroeder
Journal:  Clin Rev Allergy Immunol       Date:  2000-10       Impact factor: 8.667

2.  Extra small metacentric chromosome identified as i(18p).

Authors:  M Rocchi; M Stormi; N Archidiacono; G Filippi
Journal:  J Med Genet       Date:  1979-02       Impact factor: 6.318

3.  The genetic significance of accessory bisatellited marker chromosomes.

Authors:  P Steinbach; M Djalali; I Hansmann; E Kattner; M Meisel-Stosiek; H D Probeck; A Schmidt; M Wolf
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

4.  Tetrasomy 18p: tentative delineation of a syndrome.

Authors:  D A Batista; A M Vianna-Morgante; A Richieri-Costa
Journal:  J Med Genet       Date:  1983-04       Impact factor: 6.318

5.  Partial trisomy 18q in a newborn with typical 18 trisomy phenotype.

Authors:  J P Fryns; F Detavernier; A van Fleteren; H van den Berghe
Journal:  Hum Genet       Date:  1978-10-31       Impact factor: 4.132

6.  Efficient identification of marker chromosomes in 27 patients by stepwise hybridization with alpha-satellite DNA probes.

Authors:  R Plattner; N A Heerema; Y B Yurov; C G Palmer
Journal:  Hum Genet       Date:  1993-03       Impact factor: 4.132

7.  Small metacentric nonsatellited extra chromosome: report of five mentally retarded individuals and review of literature. Contribution to further delineation of a new syndrome.

Authors:  K B Nielsen; H Dyggve; U Friedrich; N Hobolth; T Lyngbye; M Mikkelsen
Journal:  Hum Genet       Date:  1978-10-19       Impact factor: 4.132

8.  Tetrasomy 18p: case report and review of literature.

Authors:  Shahad Bawazeer; Maha Alshalan; Aziza Alkhaldi; Nasser AlAtwi; Mohammed AlBalwi; Abdulrahman Alswaid; Majid Alfadhel
Journal:  Appl Clin Genet       Date:  2018-02-08

9.  Defective formation of IgA memory B cells, Th1 and Th17 cells in symptomatic patients with selective IgA deficiency.

Authors:  Christina Grosserichter-Wagener; Alexander Franco-Gallego; Fatemeh Ahmadi; Marcela Moncada-Vélez; Virgil Ash Dalm; Jessica Lineth Rojas; Julio César Orrego; Natalia Correa Vargas; Lennart Hammarström; Marco Wj Schreurs; Willem A Dik; P Martin van Hagen; Louis Boon; Jacques Jm van Dongen; Mirjam van der Burg; Qiang Pan-Hammarström; José L Franco; Menno C van Zelm
Journal:  Clin Transl Immunology       Date:  2020-04-29
  9 in total

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