Literature DB >> 964998

A 46,XY, del(18)(pter leads to p1 100:) cebocephalic child from a 46,XX,t(12;18)(18pter leads to 18 p 1100:: 12qter leads to 12pter) normal parent.

G Johnson, R Bachman.   

Abstract

A normal female with an 18p--chromosome but without any feature of the 18p--syndrome produced a cebocephalic child whose karyotype included an 18p--chromosome. Evidence is presented that the normal female is a nonreciprocal translocation heterozygote resulting from the short arm of one chromosome 18 becoming attached to the long arm of a chromosome 12.

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Year:  1976        PMID: 964998     DOI: 10.1007/BF00284446

Source DB:  PubMed          Journal:  Hum Genet        ISSN: 0340-6717            Impact factor:   4.132


  10 in total

1.  FAMILIAL SHORT ARM DEFICIENCY OF CHROMOSOME 18 CONCOMITANT WITH ARHINENCEPHALY AND ALOPECIA CONGENITA.

Authors:  I A UCHIDA; K N MCRAE; M RAY
Journal:  Am J Hum Genet       Date:  1965-09       Impact factor: 11.025

2.  Identification of a 18-21 translocation with Klinefelter's syndrome by G-band patterns.

Authors:  C Waldenmaier; W Hirsch; E König; K Shibata
Journal:  Humangenetik       Date:  1974-03-28

3.  New technique for distinguishing between human chromosomes.

Authors:  A T Sumner; H J Evans; R A Buckland
Journal:  Nat New Biol       Date:  1971-07-07

4.  An 18p21q translocation in a patient with presumptive "monosomy G".

Authors:  M M Cohen; T I Putnam
Journal:  Am J Dis Child       Date:  1972-12

5.  The use of proteolytic enzymes for the mapping of structural rearrangements in the chromosomes of man.

Authors:  M Seabright
Journal:  Chromosoma       Date:  1972       Impact factor: 4.316

6.  [Complete deletion of the short arm of chromosome 18 and G-18 translocation with dyschromy and hypothyroidism].

Authors:  G Malpuech; E J Raynaud; J Gaulme; P Godeneche
Journal:  Arch Fr Pediatr       Date:  1971-10

7.  [On a case of partial deletion of the short arm of chromosome 18, resulting in a familial 18c-17 translocation].

Authors:  J Lejeune; R Berger; M O Rethoré; P Paolini; J Boisse; P Mozziconacci
Journal:  Ann Genet       Date:  1966

8.  Arrhinencephaly associated with a deficiency involving chromosome 18.

Authors:  A McDermott; J Insley; M E Barton; P Roowe; J H Edwards; A H Cameron
Journal:  J Med Genet       Date:  1968-03       Impact factor: 6.318

9.  Dicentric chromosome due to an unusual fusion.

Authors:  I Subrt; B Blehová; O Táborský
Journal:  Humangenetik       Date:  1971

10.  The 24 fluorescence patterns of the human metaphase chromosomes - distinguishing characters and variability.

Authors:  T Caspersson; G Lomakka; L Zech
Journal:  Hereditas       Date:  1972       Impact factor: 3.271

  10 in total
  4 in total

1.  Three unusual but cytogenetically similar cases with up to five different cell lines involving structural and numerical abnormalities of chromosome 18.

Authors:  Isabel M Carreira; Alexandra Mascarenhas; Eunice Matoso; Ana B Couceiro; Lina Ramos; Andreas Dufke; Marie Mazauric; Rüdiger Stressig; Nadezda Kosyakova; Joana B Melo; Thomas Liehr
Journal:  J Histochem Cytochem       Date:  2007-06-26       Impact factor: 2.479

Review 2.  Factors predisposing to adjacent 2 and 3:1 disjunctions: study of 161 human reciprocal translocations.

Authors:  P Jalbert; B Sele
Journal:  J Med Genet       Date:  1979-12       Impact factor: 6.318

3.  Reciprocal translocations: a way to predict the mode of imbalanced segregation by pachytene-diagram drawing.

Authors:  P Jalbert; B Sele; H Jalbert
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

4.  Mosaic chromosome 18 anomaly delineated in a child with dysmorphism using a three-pronged cytogenetic techniques approach: a case report.

Authors:  Harsh Sheth; Sunil Trivedi; Thomas Liehr; Ketan Patel; Deepika Jain; Jayesh Sheth; Frenny Sheth
Journal:  BMC Med Genomics       Date:  2020-09-24       Impact factor: 3.063

  4 in total

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