Literature DB >> 9391894

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

T Mattina1, M Pierluigi, D Mazzone, S Scardilli, C Perfumo, F Mollica.   

Abstract

We describe a patient with double trisomy 9q34.1-->qter and 21pter-->q22.1 resulting from 3:1 segregation of a maternal balanced translocation. The patient shows a clinical syndrome similar to that observed in patients with duplication of the chromosome 9q distal region, while no signs of trisomy 21 were observed. The use of high resolution banding and FISH were of fundamental importance for the cytogenetic diagnosis and for definition of the breakpoints on both chromosomes 9 and 21.

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Year:  1997        PMID： 9391894      PMCID： PMC1051128          DOI： 10.1136/jmg.34.11.945

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


  14 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.  Supernumerary ribs and vertebrae in trisomy 9 syndrome.

Authors:  M M Taslimi; B A Glass
Journal:  Prenat Diagn       Date:  1990-07       Impact factor: 3.050

3.  Inheritance and phenotypic expression of a t(7;9)(q36;q34)mat.

Authors:  C M Krauss; K J Liptak; A Aggarwal; D Robinson
Journal:  Am J Med Genet       Date:  1989-12

4.  [Partial trisomy of chromosome 21 by maternal translocation t(15;21) (q26.2; q21)].

Authors:  O Raoul; S Carpentier; B Dutrillaux; R Mallet; J Lejeune
Journal:  Ann Genet       Date:  1976-09

Review 5.  Free proximal trisomy 21 without the Down syndrome.

Authors:  J P Park; D H Wurster-Hill; P A Andrews; W C Cooley; J M Graham
Journal:  Clin Genet       Date:  1987-11       Impact factor: 4.438

6.  Identification of an unbalanced cryptic translocation t(9;17)(q34.3;p13.3) in a child with dysmorphic features.

Authors:  A M Estop; P A Mowery-Rushton; K M Cieply; S J Kochmar; C R Sherer; M Clemens; U Surti; E McPherson
Journal:  J Med Genet       Date:  1995-10       Impact factor: 6.318

7.  Duplication 9q34 syndrome.

Authors:  P W Allderdice; B Eales; H Onyett; W Sprague; K Henderson; P A Lefeuvre; G Pal
Journal:  Am J Hum Genet       Date:  1983-09       Impact factor: 11.025

8.  Partial trisomy 9q due to maternal 9/17 translocation.

Authors:  S F Aftimos; J J Hoo; M I Parslow
Journal:  Am J Dis Child       Date:  1980-09

9.  Partial trisomy 21. Further evidence that trisomy of band 21q22 is essential for Down's phenotype.

Authors:  A Hagemeijer; E M Smit
Journal:  Hum Genet       Date:  1977-08-31       Impact factor: 4.132

Review 10.  Trisomy 9q3 syndrome: a case report and review of the literature.

Authors:  K Naritomi; Y Izumikawa; Y Goya; M Gushiken; N Shiroma; K Hirayama
Journal:  Clin Genet       Date:  1989-04       Impact factor: 4.438
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  4 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.  Autistic disorder associated with a paternally derived unbalanced translocation leading to duplication of chromosome 15pter-q13.2: a case report.

Authors:  David J Wu; Nicholas J Wang; Jennette Driscoll; Naghmeh Dorrani; Dahai Liu; Marian Sigman; N Carolyn Schanen
Journal:  Mol Cytogenet       Date:  2009-12-18       Impact factor: 2.009

3.  Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR-DSCR) on human chromosome 21.

Authors:  Maria Chiara Pelleri; Elena Cicchini; Michael B Petersen; Lisbeth Tranebjaerg; Teresa Mattina; Pamela Magini; Francesca Antonaros; Maria Caracausi; Lorenza Vitale; Chiara Locatelli; Marco Seri; Pierluigi Strippoli; Allison Piovesan; Guido Cocchi
Journal:  Mol Genet Genomic Med       Date:  2019-06-25       Impact factor: 2.183

4.  A novel 2.3 mb microduplication of 9q34.3 inserted into 19q13.4 in a patient with learning disabilities.

Authors:  Shalinder Singh; Fern Ashton; Renate Marquis-Nicholson; Jennifer M Love; Chuan-Ching Lan; Salim Aftimos; Alice M George; Donald R Love
Journal:  Case Rep Pediatr       Date:  2012-11-13
  4 in total

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