Literature DB >> 904007

Diploid/tetraploid mosaicism in the offspring of a 46XX/47XXX mosaic mother.

C M Reddy, D N Singh, E P Crump.   

Abstract

A 10½-year-old boy with an IQ of 71, short stature, and isolated growth hormone deficiency was found to have diploid/tetraploid mosaicism. He was born to a 46xx/47xxx mosaic mother. The mother was found to be moderately mentally retarded but showed no other abnormalities. A review of literature pertinent to this case is presented.

Entities:  

Mesh：

Year:  1977        PMID： 904007      PMCID： PMC2609611     

Source DB:  PubMed          Journal:  J Natl Med Assoc        ISSN： 0027-9684            Impact factor:   1.798


  10 in total

1.  A SIMPLE CHROMATOGRAPHIC SCREENING TEST FOR THE DETECTION OF DISORDERS OF AMINO ACID METABOLISM. A TECHNIC USING WHOLE BLOOD OR URINE COLLECTED ON FILTER PAPER.

Authors:  M L EFRON; D YOUNG; H W MOSER; R A MACCREADY
Journal:  N Engl J Med       Date:  1964-06-25       Impact factor: 91.245

2.  FAMILIAL MOSAICISM ATTRIBUTABLE TO A NEW GENE.

Authors:  W ROSENKRANZ
Journal:  Lancet       Date:  1965-05-01       Impact factor: 79.321

3.  XXYY son of a triple-X mother.

Authors:  J Zizka; P Balícek; J Nielsen
Journal:  Humangenetik       Date:  1975

4.  Proceedings of the anatomical society of australia and new zealand, may 1968.

Authors: 
Journal:  J Anat       Date:  1969-03       Impact factor: 2.610

5.  XXY son of a possibly XX-XXX mother.

Authors:  A G Baikie; J A Dartnall; J N Lickiss
Journal:  Lancet       Date:  1972-03-25       Impact factor: 79.321

6.  XXY son of XX-XXX mother.

Authors:  M Geisler; J Svejcar; K H Degenhardt
Journal:  Lancet       Date:  1972-04-29       Impact factor: 79.321

7.  Population cytogenetic investigation of newborns in Moscow.

Authors:  N P Bochkov; N P Kuleshov; A N Chebotarev; V I Alekhin; S A Midian
Journal:  Humangenetik       Date:  1974-05-17

8.  The triplo-X female: an appraisal based on a study of 12 cases and a review of the literature.

Authors:  M L Barr; F R Sergovich; D H Carr; E L Saver
Journal:  Can Med Assoc J       Date:  1969-09-06       Impact factor: 8.262

9.  Screening for inborn errors of metabolism associated with mental deficiency or neurologic disorders or both.

Authors:  A W Renuart
Journal:  N Engl J Med       Date:  1966-02-17       Impact factor: 91.245

10.  Chromosome mosaicism in a population sample.

Authors:  J Nielsen
Journal:  Humangenetik       Date:  1975-09-10
  10 in total
  2 in total

1.  Endocrine disorders associated with mental retardation.

Authors:  C M Reddy
Journal:  J Natl Med Assoc       Date:  1980-03       Impact factor: 1.798

2.  Tetraploid-diploid mosaicism in a patient with pigmentary anomalies of hair and skin: a new dermatologic feature.

Authors:  John Paul Schacht; Elisha Farnworth; Jacob Hogue; Luis Rohena
Journal:  Clin Case Rep       Date:  2017-11-29
  2 in total

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