Literature DB >> 1261081

Partial trisomy 5 with a carrier parent t(5p-;9p+).

P Monteleone, J Monteleone, G Sekhon, W Hamilton, S L Volk, J Grzegocki, M Tietjens.   

Abstract

The significance of partial trisomies of the B group is as yet unknown. An infant with multiple congenital anomalies was found to have a partial trisomy 5p+ syndrome. The father of this patient demonstrated a 5/9 translocation carrier state. A discussion of the relationship of the partial 5p+ syndrome to the Cri du chat syndrome is noted. Partial trisomy 5 would not appear, as yet, to represent a clearly definable syndrome.

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Year:  1976        PMID: 1261081     DOI: 10.1111/j.1399-0004.1976.tb02274.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  5 in total

Review 1.  Eleven new cases of del(9p) and features from 80 cases.

Authors:  J L Huret; C Leonard; B Forestier; M O Rethoré; J Lejeune
Journal:  J Med Genet       Date:  1988-11       Impact factor: 6.318

2.  "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

3.  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

4.  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 5.  The Cri du Chat syndrome: epidemiology, cytogenetics, and clinical features.

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

  5 in total

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