Literature DB >> 457135

18Q - syndrome resulting from a tdic(14p; 18q).

J C Lambert, M Ferrari, C Bergondi, A Galliana, N Ayraud.   

Abstract

A case of 18q- syndrome due to a de novo tdic(14p;18q) is presented. The interest of this observation lies in the rarity of stable dicentric chromosomes arising from reciprocal translocations between autosomes.

Entities:  

Mesh：

Year:  1979        PMID： 457135     DOI： 10.1007/bf00273275

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


  22 in total

1.  [PARTIAL DELETION OF THE LONG ARMS OF THE CHROMOSOME 18].

Authors:  J DE GROUCHY; P ROYER; C SALMON; M LAMY
Journal:  Pathol Biol       Date:  1964-05

2.  Dicentric X isochromosomes in man.

Authors:  R T Howell; S H Roberts; R J Beard
Journal:  J Med Genet       Date:  1976-12       Impact factor: 6.318

3.  Cytogenetic studies in seven individuals with an i(Xq) karyotype.

Authors:  E Niebuhr; F Skovby
Journal:  Hereditas       Date:  1977       Impact factor: 3.271

4.  Unusual findings by fluorescence microscopy of a t(13q14q).

Authors:  E Niebuhr
Journal:  Humangenetik       Date:  1972

5.  Dicentric and monocentric Robertsonian translocations in man.

Authors:  E Niebuhr
Journal:  Humangenetik       Date:  1972

6.  Structural aberrations of chromosome 18. I. The 18p-syndrome.

Authors:  A Schinzel; W Schmid; U Lüscher; M Nater; C Brook; B Steinmann
Journal:  Arch Genet (Zur)       Date:  1974

7.  A 45,XX,5-,13-,dic+ karyotype in a case of cri-du-chat syndrome.

Authors:  E Niebuhr
Journal:  Cytogenetics       Date:  1972

8.  Multiple abnormalities due to possible genetic inactivation in an X-autosome translocation.

Authors:  T H Thelen; D J Abrams; R O Fisch
Journal:  Am J Hum Genet       Date:  1971-07       Impact factor: 11.025

9.  Four new cases of Dicentric Y chromosomes.

Authors:  F Giraud; J F Mattei; C Lucas; M G Mattei
Journal:  Hum Genet       Date:  1977-05-10       Impact factor: 4.132

10.  Mental retardation, malformation syndrome andpartial 7p monosomy [45, XX, tdic (7;15) (p21;p11)].

Authors:  Y Nakagome; F Teramura; K Katoaka; F Hosono
Journal:  Clin Genet       Date:  1976-06       Impact factor: 4.438
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  2 in total

1.  Mixed gonadal dysgenesis in a patient with de novo tas(Y;19)(p11.3;q13.4) and 45,X mosaicism.

Authors:  Zafer Cetin; Mesut Parlak; Ozden Altiok Clark; Gungor Karaguzel; Guven Luleci; Iffet Bircan; Sibel Berker-Karauzum
Journal:  Eur J Pediatr       Date:  2013-05-08       Impact factor: 3.183

2.  Molecular cytogenetic characterization of a non-robertsonian dicentric chromosome 14;19 identified in a girl with short stature and amenorrhea.

Authors:  Usha R Dutta; Vijaya Kumar Pidugu; Ashwin Dalal
Journal:  Case Rep Genet       Date:  2012-11-05
  2 in total

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