Literature DB >> 155399

Abnormal skin fibroblast cytogenetics in four dysmorphic patients with normal lymphocyte chromosomes.

R A Pagon, J G Hall, S L Davenport, J Aase, T H Norwood, H W Hoehn.   

Abstract

Four patients with features suggestive of chromosome disorders but with normal lymphocyte karyotypes were found to have chromosome aberrations in skin fibroblast karyotypes. Although mosaicism for chromosome abnormalities in lymphocyte cultures is common, apparent restriction of mosaicism to one tissue is unusual. We suggest that after examination of lymphocyte karyotypes, certain patients warrant cytogenetic evaluation of a second tissue, usually cultured skin fibroblasts.

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Year:  1979        PMID： 155399      PMCID： PMC1685679     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  27 in total

1.  Observations of de novo clones of cytogentically aberrant cells in primary fibroblast cell strains from phenotypically normal women.

Authors:  L G Littlefield; J B Mailhes
Journal:  Am J Hum Genet       Date:  1975-03       Impact factor: 11.025

2.  CONGENITAL ASYMMETRY ASSOCIATED WITH DIPLOID-TRIPLOID MOSAICISM AND LARGE SATELLITES.

Authors:  P FERRIER; G STALDER; F BAMATTER; S FERRIER; E BUEHLER; D KLEIN
Journal:  Lancet       Date:  1964-01-11       Impact factor: 79.321

3.  A MOSAIC MONGOL WITH NORMAL LEUCOCYTE CHROMOSOMES.

Authors:  M A RIDLER; A SHAPIRO; J D DELHANTY; G F SMITH
Journal:  Br J Psychiatry       Date:  1965-02       Impact factor: 9.319

4.  Malformation syndrome associated with triploidy--further chromosome studies of the patient and his family.

Authors:  J A BOOK; J G MASTERSON; B SANTESSON
Journal:  Acta Genet Stat Med       Date:  1962

5.  Chromosomal mosaicism in Down's syndrome: a diagnostic challenge.

Authors:  R L Ladda; M J Maisels; J H Dossett; Y Dobelle
Journal:  Dev Med Child Neurol       Date:  1977-10       Impact factor: 5.449

6.  Cytogenetically marked clones in human fibroblasts cultured from normal subjects.

Authors:  D G Harnden; P A Benn; J M Oxford; A M Taylor; T P Webb
Journal:  Somatic Cell Genet       Date:  1976-01

7.  Mosaic mongolism with normal chromosomal complement in the white blood cells.

Authors:  H Zellweger; G Abbo; M K Nielsen; K Wallwork
Journal:  Humangenetik       Date:  1966

8.  A simple method for R banding of human chromosomes, showing a pH-dependent connection between R and G bands.

Authors:  J Sehested
Journal:  Humangenetik       Date:  1974-01-22

9.  Variegated translocation mosaicism in human skin fibroblast cultures.

Authors:  H Hoehn; E M Bryant; K Au; T H Norwood; H Boman; G M Martin
Journal:  Cytogenet Cell Genet       Date:  1975

Review 10.  CHROMOSOME ANALYSES IN A CHILDREN'S HOSPITAL. SELECTION OF PATIENTS AND RESULTS OF STUDIES.

Authors:  J WARKANY; E D WEINSTEIN; S W SOUKUP; J H RUBINSTEIN; M C CURLESS
Journal:  Pediatrics       Date:  1964-02       Impact factor: 7.124
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  19 in total

1.  Lesson of the week: Turner's syndrome mosaicism in patients with a normal blood lymphocyte karyotype.

Authors:  C Azcona; P Bareille; R Stanhope
Journal:  BMJ       Date:  1999-03-27

Review 2.  Review and hypothesis: Alzheimer disease and Down syndrome--chromosome 21 nondisjunction may underlie both disorders.

Authors:  H Potter
Journal:  Am J Hum Genet       Date:  1991-06       Impact factor: 11.025

Review 3.  Review and hypotheses: somatic mosaicism: observations related to clinical genetics.

Authors:  J G Hall
Journal:  Am J Hum Genet       Date:  1988-10       Impact factor: 11.025

4.  Mosaicism with a normal cell line and an autosomal structural rearrangement.

Authors:  R J Gardner; H E Dockery; P H Fitzgerald; R G Parfitt; D R Romain; N Scobie; R L Shaw; P Tumewu; A J Watt
Journal:  J Med Genet       Date:  1994-02       Impact factor: 6.318

5.  A somatic origin of homologous Robertsonian translocations and isochromosomes.

Authors:  W P Robinson; F Bernasconi; S Basaran; M Yüksel-Apak; G Neri; F Serville; P Balicek; R Haluza; L M Farah; G Lüleci
Journal:  Am J Hum Genet       Date:  1994-02       Impact factor: 11.025

6.  Different patterns of X chromosome inactivity in lymphocytes and fibroblasts of a human balanced X;autosome translocation.

Authors:  B Hellkuhl; A de la Chapelle; K H Grzeschik
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

7.  Study of two cases of ring 13 chromosome using high-resolution banding.

Authors:  I M Jones; C G Palmer; D D Weaver; M E Hodes
Journal:  Am J Hum Genet       Date:  1981-03       Impact factor: 11.025

8.  Lymphocyte chromosome survey in 42 patients with retinoblastoma: effort to detect 13q14 deletion mosaicism.

Authors:  T Motegi
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

Review 9.  Human chromosome 22.

Authors:  J C Kaplan; A Aurias; C Julier; M Prieur; M F Szajnert
Journal:  J Med Genet       Date:  1987-02       Impact factor: 6.318

10.  Trisomy 22 in a newborn with multiple malformations.

Authors:  I Voiculescu; E Back; A M Duncan; H Schwaibold; W Schempp
Journal:  Hum Genet       Date:  1987-07       Impact factor: 4.132
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