Literature DB >> 8558564

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

A M Estop1, P A Mowery-Rushton, K M Cieply, S J Kochmar, C R Sherer, M Clemens, U Surti, E McPherson.   

Abstract

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Year:  1995        PMID： 8558564      PMCID： PMC1051710          DOI： 10.1136/jmg.32.10.819

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


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  19 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.  Partial trisomy 9q--chromosomal syndrome.

Authors:  I Subrt; M Janovský; J Jodl
Journal:  Hum Genet       Date:  1976-10-28       Impact factor: 4.132

3.  A mapped set of DNA markers for human chromosome 17.

Authors:  Y Nakamura; M Lathrop; P O'Connell; M Leppert; D Barker; E Wright; M Skolnick; S Kondoleon; M Litt; J M Lalouel
Journal:  Genomics       Date:  1988-05       Impact factor: 5.736

4.  Familial half cryptic translocation t(9;17).

Authors:  A Köhler; J Hain; U Müller
Journal:  J Med Genet       Date:  1994-09       Impact factor: 6.318

5.  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

6.  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

7.  The phenotypic and cytogenetic spectrum of partial trisomy 9.

Authors:  G N Wilson; A Raj; D Baker
Journal:  Am J Med Genet       Date:  1985-02

8.  Inhibitory effect of ethidium bromide on mitotic chromosome condensation and its application to high-resolution chromosome banding.

Authors:  T Ikeuchi
Journal:  Cytogenet Cell Genet       Date:  1984

9.  Human chromosome 17 NotI linking clones and their use in long-range restriction mapping of the Miller-Dieker chromosome region (MDCR) in 17p13.3.

Authors:  S A Ledbetter; M R Wallace; F S Collins; D H Ledbetter
Journal:  Genomics       Date:  1990-06       Impact factor: 5.736

10.  Partial trisomy 9q resulting from a familial translocation t(9;16)(q32;q24).

Authors:  H C Soltan; J H Jung; Z Pyatt; R P Singh
Journal:  Clin Genet       Date:  1984-05       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.  A new strategy for cryptic telomeric translocation screening in patients with idiopathic mental retardation.

Authors:  S R Ghaffari; E Boyd; J L Tolmie; Y J Crow; A H Trainer; J M Connor
Journal:  J Med Genet       Date:  1998-03       Impact factor: 6.318

3.  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

4.  Road to a rare diagnosis: Description of novel unbalanced translocation causing partial trisomy 17p.

Authors:  Melab Musabi; Ayman Saker; Jessi Baer; Peter Wang; Anahita Mohseni Meybodi; Chitra Prasad; Soume Bhattacharya
Journal:  Clin Case Rep       Date:  2022-10-06
  4 in total

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