Literature DB >> 957385

46,XY/46,XY,21q- mosaicism in an infant with neutropenia and properdin deficiency.

R L Neu, J A Stockman, R E Spitzer, R H Tomar.   

Abstract

An infant with neutropenia, properdin deficiency, and a 46,XY/46,XY,21q- mosaicism is described. It is not known whether these two findings are related to the missing 21q material. The propositus is normal in appearance, and has none of the phenotypic features associated with the G-group deletion syndromes.

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Year:  1976        PMID： 957385      PMCID： PMC1013428          DOI： 10.1136/jmg.13.4.332

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


  16 in total

1.  [PARTIAL MONOSOMY FOR A SMALL ACROCENTRIC CHROMOSOME].

Authors:  J LEJEUNE; R BERGER; M O RETHORE; L ARCHAMBAULT; H JEROME; S THIEFFRY; J AICARDI; M BROYER; J LAFOURCADE; J CRUVEILLER; R TURPIN
Journal:  C R Hebd Seances Acad Sci       Date:  1964-11-30

2.  ENDOREDUPLICATION AND DISEASE.

Authors:  J H TURNER; N WALD
Journal:  Lancet       Date:  1965-04-24       Impact factor: 79.321

3.  An XYY man with progeny indicating familial tendency to non-disjunction.

Authors:  T S HAUSCHKA; J E HASSON; M N GOLDSTEIN; G F KOEPF; A A SANDBERG
Journal:  Am J Hum Genet       Date:  1962-03       Impact factor: 11.025

Review 4.  Triploidy in man. Cytogenetical and clinical aspects.

Authors:  E Niebuhr
Journal:  Humangenetik       Date:  1974-02-21

5.  Mosaic tetraploidy in a two-year-old female.

Authors:  T E Kelly; J M Rary
Journal:  Clin Genet       Date:  1974       Impact factor: 4.438

6.  Giemsa staining of heterochromatic areas of human chromosomes for identification.

Authors:  J P Frey; R L Neu; H O Powers; L I Gardner
Journal:  Can J Genet Cytol       Date:  1972-03

7.  Identification by fluorescent microscopy of the abnormal chromosomes associated with the G-deletion syndromes.

Authors:  R J Warren; D L Rimoin; R L Summitt
Journal:  Am J Hum Genet       Date:  1973-01       Impact factor: 11.025

8.  Teraphloid-diploid mosaicism in a surviving infant.

Authors:  G Kohn; B H Mayall; M E Miller; W J Mellman
Journal:  Pediatr Res       Date:  1967-11       Impact factor: 3.756

9.  Chromosomes and spray adhesivess.

Authors:  J Cervenka; H L Thorn
Journal:  N Engl J Med       Date:  1974-03-07       Impact factor: 91.245

10.  Anti-mongolism. Studies in an infant with a partial monosomy of the 21 chromosome.

Authors:  L E Reisman; S Kashara; C Y Chung; A Darnell; B Hall
Journal:  Lancet       Date:  1966-02-19       Impact factor: 79.321
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