Literature DB >> 5410414

Polydactyly and other minor stigmata associated with 46,XX-47,XX,D+ mosaicism.

P Bowen, C S Lee, D R Shea, H B Armstrong.   

Abstract

Mosaicism for normal and D-trisomic cells was found in a female child whose presenting abnormalities at birth were polydactyly of the left hand and foot, hemangiomata on the forehead and lumbosacral region, slightly peculiar facies and unusual dermal patterns. Her course during the first 27 months of life was characterized by normal growth, absence of clinical evidence of congenital heart disease, moderate developmental retardation, tonguetie and toe-walking. Trisomic cells were more numerous than normal cells in skin cultures, whereas the reverse was true for peripheral leukocytes.

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Mesh:

Year:  1970        PMID: 5410414      PMCID: PMC1946543     

Source DB:  PubMed          Journal:  Can Med Assoc J        ISSN: 0008-4409            Impact factor:   8.262


  6 in total

1.  SOME ASPECTS OF CHROMOSOME MOSAICISM IN CLINICAL MEDICINE.

Authors:  C E BLANK
Journal:  Lancet       Date:  1964-10-24       Impact factor: 79.321

2.  MICROTECHNIQUE FOR CULTURING LEUKOCYTES FROM WHOLE BLOOD.

Authors:  D T ARAKAKI; R S SPARKES
Journal:  Cytogenetics       Date:  1963

3.  Dermal patterns of 18 and D1 trisomics.

Authors:  I A UCHIDA; K PATAU; D W SMITH
Journal:  Am J Hum Genet       Date:  1962-12       Impact factor: 11.025

4.  The use of dermal configurations in the diagnosis of mongolism.

Authors:  N F WALKER
Journal:  J Pediatr       Date:  1957-01       Impact factor: 4.406

5.  Congenital asymmetry associated with trisomy 18 mosaicism.

Authors:  E B Hook; J J Yunis
Journal:  Am J Dis Child       Date:  1965-11

6.  A spontaneous mouse chimera formed from separate fertilization of two meiotic products of oogenesis.

Authors:  L B Russell; F N Woodiel
Journal:  Cytogenetics       Date:  1966
  6 in total
  1 in total

1.  A chromosome 13q+ in a patient with characteristics of the trisomy 13 syndrome.

Authors:  H Hoehn; U Wolf; H Schumacher; H Wehinger
Journal:  Humangenetik       Date:  1971
  1 in total

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