Literature DB >> 3066903

Simultaneous trisomy 9q3 and monosomy 5p in two children with der(5),t(5;9)(p15.1;q34.13): report of an extended family.

D Wellesley1, I D Young, P Cooke, D F Callen, A Hockey.   

Abstract

We present a family segregating for t(5;9)(p15.1;q34.13). Two cases with der(5),t(5;9), resulting in a partial duplication 9q34.13----qter and partial deletion of 5p15.12----pter, were ascertained. The phenotypes were consistent with features of both the cri du chat and trisomy 9q3 syndromes.

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Year:  1988        PMID： 3066903      PMCID： PMC1051566          DOI： 10.1136/jmg.25.10.707

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


  6 in total

1.  Partial trisomy 9q: a new syndrome.

Authors:  C Turleau; J de Grouchy; F Chavin-Colin; M Roubin; P E Brissaud; G Repessé; A Safar; P Borniche
Journal:  Humangenetik       Date:  1975-09-23

2.  Pure partial trisomy for long arm of chromosome 9.

Authors:  M Faed; J Robertson; S Brown; P J Smail; R D Muckhart
Journal:  J Med Genet       Date:  1976-06       Impact factor: 6.318

3.  Familial 5p- syndrome.

Authors:  T Kushnick; K W Rao; A N Lamb
Journal:  Clin Genet       Date:  1984-11       Impact factor: 4.438

Review 4.  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.  A malformed girl with duplication of chromosome 9q.

Authors:  Y Nakahori; Y Nakagome
Journal:  J Med Genet       Date:  1984-10       Impact factor: 6.318

6.  Interstitial deletion of the short arm of chromosome 5 in a mother and three children.

Authors:  J L Walker; C E Blank; B A Smith
Journal:  J Med Genet       Date:  1984-12       Impact factor: 6.318
  6 in total
  2 in total

1.  9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression.

Authors:  Maria Teresa Bonati; Chiara Castronovo; Alessandra Sironi; Dario Zimbalatti; Ilaria Bestetti; Milena Crippa; Antonio Novelli; Sara Loddo; Maria Lisa Dentici; Juliet Taylor; Françoise Devillard; Lidia Larizza; Palma Finelli
Journal:  Neurogenetics       Date:  2019-06-17       Impact factor: 2.660

2.  Double partial trisomy 9q34.1-->qter and 21pter-->q22.11: FISH and clinical findings.

Authors:  T Mattina; M Pierluigi; D Mazzone; S Scardilli; C Perfumo; F Mollica
Journal:  J Med Genet       Date:  1997-11       Impact factor: 6.318
  2 in total

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