Literature DB >> 14161436

[FAMILIAL SEGREGATION OF A 5-13 TRANSLOCATION DETERMINING PARTIAL MONOSOMY AND A TRISOMY OF THE SHORT ARM OF THE 5 CHROMOSOME: "CAT CRY" DISEASE AND ITS "RECEPROCAL"].

J LEJEUNE, J LAFOURCADE, R BERGER, R TURPIN.   

Abstract

Keywords:  CHILD; CHROMOSOME ABNORMALITIES; DERMATOGLYPHICS; DWARFISM; FACIAL BONES; INFANT; MENTAL RETARDATION; TRISOMY; VOICE

Mesh：

Year:  1964        PMID： 14161436

Source DB:  PubMed          Journal:  C R Hebd Seances Acad Sci        ISSN： 0001-4036


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  15 in total

1.  A FAMILIAL 4/5 RECIPROCAL TRANSLOCATION RESULTING IN PARTIAL TRISOMY B.

Authors:  M W SHAW; M M COHEN; H M HILDERBRANDT
Journal:  Am J Hum Genet       Date:  1965-01       Impact factor: 11.025

2.  'Complete 5p' trisomy: 1 case and 19 translocation carriers in 6 generations.

Authors:  F S Brimblecombe; F J Lewis; M Vowles
Journal:  J Med Genet       Date:  1977-08       Impact factor: 6.318

3.  Electroclinical characteristics and neuropsychological profile of a female child with chromosome 5p13.2 duplication syndrome.

Authors:  Elisabetta Lucarelli; Maria Grazia Pasca; Isabella Fanizza; Antonio Trabacca
Journal:  Neurol Sci       Date:  2017-01-20       Impact factor: 3.307

4.  Familial 2/3 translocation.

Authors:  R L Summitt
Journal:  Am J Hum Genet       Date:  1966-03       Impact factor: 11.025

5.  "Complete" trisomy 5p; de novo translocation t(2;5)(q36;p11) with isochromosome 5p. Case report and review of the literature.

Authors:  N J Leschot; K S Lim
Journal:  Hum Genet       Date:  1979-02-15       Impact factor: 4.132

6.  Transmission of the cri-du-chat syndrome from a maternal balanced translocation carrier, t(5p-;11q+).

Authors:  D N Singh; R A Osborne; R A Wiscovitch
Journal:  Humangenetik       Date:  1973-12-20

7.  Partial trisomy-5p.

Authors:  E Yunis; R Silva; H Egel; R Zúñiga; O M Torres de Caballero; E Ramirez; H Poveda de Ruiz
Journal:  Hum Genet       Date:  1978-08-31       Impact factor: 4.132

8.  Pure partial trisomy of the short arm of chromosome 5.

Authors:  M O Rethoré; M C Blois; M Peeters; P Popowski; C Pangalos; J Lejeune
Journal:  Hum Genet       Date:  1989-06       Impact factor: 4.132

9.  Partial trisomy for short and long arm of chromosome no. 5: Two cases of two possible syndromes.

Authors:  B Zabel; W Baumann; J Gehler; G Conrad
Journal:  J Med Genet       Date:  1978-04       Impact factor: 6.318

Review 10.  The Cri du Chat syndrome: epidemiology, cytogenetics, and clinical features.

Authors:  E Niebuhr
Journal:  Hum Genet       Date:  1978-11-16       Impact factor: 4.132
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