Literature DB >> 3560173

Confirmation of a suspected 16q deletion in a dysmorphic child by flow karyotype analysis.

A Cooke, J Tolmie, W Darlington, E Boyd, R Thomson, M A Ferguson-Smith.   

Abstract

Cytogenetic examination of a dysmorphic infant with multiple congenital abnormalities revealed a possible de novo interstitial deletion in the long arm of chromosome 16. Conclusive proof of the deletion was obtained by flow karyotype analysis of the patient and both parents, which showed that the deleted segment was approximately 7000 kb in size.

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Year:  1987        PMID： 3560173      PMCID： PMC1049895          DOI： 10.1136/jmg.24.2.88

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


  8 in total

1.  Partial monosomy of the long arm of chromosome 16 in a malformed newborn: karyotype 46,XX,del(16))q21).

Authors:  J P Fryns; S Melchoir; J Jaeken; H van den Berghe
Journal:  Hum Genet       Date:  1977-10-14       Impact factor: 4.132

2.  Optimising human chromosome separation for the production of chromosome-specific DNA libraries by flow sorting.

Authors:  P Harris; E Boyd; M A Ferguson-Smith
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

3.  Determination of the DNA content of human chromosomes by flow cytometry.

Authors:  P Harris; E Boyd; B D Young; M A Ferguson-Smith
Journal:  Cytogenet Cell Genet       Date:  1986

4.  Identical twins with deletion 16q syndrome: evidence that 16q12.2-q13 is the critical band region.

Authors:  F F Elder; J W Ferguson; L H Lockhart
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

5.  Interstitial 16q deletion with typical dysmorphic syndrome.

Authors:  J P Fryns; W Proesmans; G Van Hoey; H Van den Berghe
Journal:  Ann Genet       Date:  1981

6.  High-resolution analysis of human peripheral lymphocyte chromosomes by flow cytometry.

Authors:  B D Young; M A Ferguson-Smith; R Sillar; E Boyd
Journal:  Proc Natl Acad Sci U S A       Date:  1981-12       Impact factor: 11.205

7.  A terminal long arm deletion of chromosome 16 in a dysmorphic infant: 46,XY,del(16) (q22).

Authors:  K Taysi; M Fishman; G S Sekhon
Journal:  Birth Defects Orig Artic Ser       Date:  1978

8.  Recurrent de novo interstitial deletion of 16q in two mentally retarded sisters.

Authors:  J J Hoo; R B Lowry; C C Lin; R H Haslam
Journal:  Clin Genet       Date:  1985-04       Impact factor: 4.438
  8 in total
  4 in total

1.  Detection of an unbalanced translocation (4;14) in a mildly retarded father and son by flow cytometry.

Authors:  A Cooke; J L Tolmie; J M Colgan; C M Greig; J M Connor
Journal:  Hum Genet       Date:  1989-08       Impact factor: 4.132

2.  High resolution mapping of interstitial long arm deletions of chromosome 16: relationship to phenotype.

Authors:  D F Callen; H Eyre; S Lane; Y Shen; I Hansmann; N Spinner; E Zackai; D McDonald-McGinn; S Schuffenhauer; J Wauters
Journal:  J Med Genet       Date:  1993-10       Impact factor: 6.318

3.  Contribution of copy number variants (CNVs) to congenital, unexplained intellectual and developmental disabilities in Lebanese patients.

Authors:  Nancy Choucair; Joelle Abou Ghoch; Sandra Corbani; Pierre Cacciagli; Cecile Mignon-Ravix; Nabiha Salem; Nadine Jalkh; Sandra El Sabbagh; Ali Fawaz; Tony Ibrahim; Laurent Villard; André Mégarbané; Eliane Chouery
Journal:  Mol Cytogenet       Date:  2015-04-09       Impact factor: 2.009

4.  Identification and characterization of novel ACD variants: modulation of TPP1 protein level offsets the impact of germline loss-of-function variants on telomere length.

Authors:  Gabrielle Henslee; Christopher L Williams; Pengfei Liu; Alison A Bertuch
Journal:  Cold Spring Harb Mol Case Stud       Date:  2021-02-19
  4 in total

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