Literature DB >> 6604494

Interstitial deletion of the long arm of chromosome 3.

J T Martsolf, M Ray.   

Abstract

A patient with multiple congenital malformations and developmental delay is reported. Her karyotype is 46,XX,del(3)(q23q25).

Entities:  

Mesh：

Year:  1983        PMID： 6604494

Source DB:  PubMed          Journal:  Ann Genet        ISSN： 0003-3995


  9 in total

Review 1.  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

2.  A case of de novo interstitial deletion 3q.

Authors:  N Okada; T Hasegawa; M Osawa; Y Fukuyama
Journal:  J Med Genet       Date:  1987-05       Impact factor: 6.318

3.  RBX2 maintains final retinal cell position in a DAB1-dependent and -independent fashion.

Authors:  Corinne L Fairchild; Keiko Hino; Jisoo S Han; Adam M Miltner; Gabriel Peinado Allina; Caileigh E Brown; Marie E Burns; Anna La Torre; Sergi Simó
Journal:  Development       Date:  2018-02-02       Impact factor: 6.868

4.  Interstitial deletion of band 3q25.

Authors:  A M Slavotinek; S M Huson; M Fitchett
Journal:  J Med Genet       Date:  1997-05       Impact factor: 6.318

5.  Blepharophimosis sequence and diaphragmatic hernia associated with interstitial deletion of chromosome 3 (46,XY,del(3)(q21q23)).

Authors:  J Wolstenholme; J Brown; K G Masters; C Wright; C J English
Journal:  J Med Genet       Date:  1994-08       Impact factor: 6.318

6.  A gene for blepharophimosis-ptosis-epicanthus inversus syndrome maps to chromosome 3q23.

Authors:  P Amati; J C Chomel; A Nivelon-Chevalier; S Gilgenkrantz; A Kitzis; J Kaplan; D Bonneau
Journal:  Hum Genet       Date:  1995-08       Impact factor: 4.132

7.  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 8.  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

9.  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
  9 in total

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