Literature DB >> 9152845

Interstitial deletion of band 3q25.

A M Slavotinek1, S M Huson, M Fitchett.   

Abstract

Interstitial deletions of the long arm of chromosome 3 are rare. We report a man with an interstitial deletion involving band 3q25. To our knowledge, this is the first patient to be described with this cytogenetic abnormality.

Entities:  

Mesh：

Year:  1997        PMID： 9152845      PMCID： PMC1050955          DOI： 10.1136/jmg.34.5.430

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


  12 in total

1.  Further evidence for the location of the BPES gene at 3q2.

Authors:  C E de Die-Smulders; J J Engelen; J M Donk; J P Fryns
Journal:  J Med Genet       Date:  1991-10       Impact factor: 6.318

Review 2.  Partial monosomy 3q in a boy with short stature, developmental delay, and mild dysmorphic features.

Authors:  L A Brueton; J C Barber; S M Huson; R M Winter
Journal:  J Med Genet       Date:  1989-11       Impact factor: 6.318

3.  Hypothesis for development of a behavioral phenotype in Williams syndrome.

Authors:  C V Dilts; C A Morris; C O Leonard
Journal:  Am J Med Genet Suppl       Date:  1990

4.  Another example favouring the location of BPES at 3q2.

Authors:  J C de Almeida; J C Llerena Júnior; J B Gonçalves Neto; M Jung; R R Martins
Journal:  J Med Genet       Date:  1993-01       Impact factor: 6.318

5.  Interstitial deletion of the long arm of chromosome 3.

Authors:  J T Martsolf; M Ray
Journal:  Ann Genet       Date:  1983

6.  Interstitial deletion of the long arm of chromosome 3 in a patient with mental retardation and congenital anomalies.

Authors:  P Franceschini; M Cirillo Silengo; G Davi; R Bianco; M Biagioli
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

7.  Familial insertional translocation of a portion of 3q into 11q resulting in duplication and deletion of region 3q22.1 leads to q24 in different offspring.

Authors:  R A Williamson; M A Donlan; C R Dolan; H C Thuline; M T Harrison; J G Hall
Journal:  Am J Med Genet       Date:  1981

8.  Trigonocephaly and the Opitz C syndrome.

Authors:  C Sargent; J Burn; M Baraitser; M E Pembrey
Journal:  J Med Genet       Date:  1985-02       Impact factor: 6.318

9.  De novo del(3)(q2800).

Authors:  M C Alvarez Arratia; H Rivera; M Möller; A Valdivia; A Vigueras; J M Cantu
Journal:  Ann Genet       Date:  1984

Review 10.  Interstitial deletion of the long arm of chromosome 3: case report, review, and definition of a phenotype.

Authors:  M Alvarado; M Bocian; A P Walker
Journal:  Am J Med Genet       Date:  1987-08
View more
  4 in total

1.  DIA1R is an X-linked gene related to Deleted In Autism-1.

Authors:  Azhari Aziz; Sean P Harrop; Naomi E Bishop
Journal:  PLoS One       Date:  2011-01-17       Impact factor: 3.240

2.  Case report of Chromosome 3q25 deletion syndrome or Mucopolysaccharidosis IIIB.

Authors:  Yu-Tzu Chang; Chung-Hsing Wang; I-Ching Chou; Wei-De Lin; Siew-Yin Chee; Huang-Tsung Kuo; Fuu-Jen Tsai
Journal:  Biomedicine (Taipei)       Date:  2014-08-06

Review 3.  Wisconsin syndrome with brain volume laterality: a case report and review of the literature.

Authors:  Satomi Okano; Yoshio Makita; Kayano Kimura; Ikue Fukuda; Akie Miyamoto; Hajime Tanaka
Journal:  J Med Case Rep       Date:  2022-04-16

4.  Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions.

Authors:  Alessandro Ferraris; Laura Bernardini; Vesna Sabolic Avramovska; Ginevra Zanni; Sara Loddo; Elena Sukarova-Angelovska; Valentina Parisi; Anna Capalbo; Stefano Tumini; Lorena Travaglini; Francesca Mancini; Filip Duma; Sabina Barresi; Antonio Novelli; Eugenio Mercuri; Luigi Tarani; Enrico Bertini; Bruno Dallapiccola; Enza Maria Valente
Journal:  Orphanet J Rare Dis       Date:  2013-05-16       Impact factor: 4.123
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.