Literature DB >> 2918541

Interstitial deletion of the long arm of chromosome 2 with normal levels of isocitrate dehydrogenase.

I A Glass1, C A Swindlehurst, D A Aitken, W McCrea, E Boyd.   

Abstract

We report a 16 year old boy with the abnormal karyotype 46,XY,del(2)(q32.2q33.1) who has mental retardation, microcephaly, epilepsy, craniofacial dysmorphism, distinctive scalloped skin pigmentation, and normal levels of isocitrate dehydrogenase.

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Year:  1989        PMID： 2918541      PMCID： PMC1015564          DOI： 10.1136/jmg.26.2.127

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


  8 in total

1.  Probable assignment of soluble isocitrate dehydrogenase (IDH1) to 2q33.3.

Authors:  K Narahara; S Kimura; K Kikkawa; Y Takahashi; Y Wakita; R Kasai; S Nagai; Y Nishibayashi; H Kimoto
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

2.  [De novo interstitial deletion of the long arm of chromosome 2: 46,XXX,del(2)(q14q21), associated with premature craniosynostosis].

Authors:  J Lucas; J Faivre; F Le Mee; S Hubert; K Pluquailec; F Picard
Journal:  Ann Genet       Date:  1987

3.  Interstitial deletion of the long arm of chromosome 2: del(2)(q31q33).

Authors:  S A Al-Awadi; T I Farag; K Naguib; A Teebi; A Cuschieri; S Al-Othman; T S Sundareshan
Journal:  J Med Genet       Date:  1983-12       Impact factor: 6.318

4.  Identical multiple congenital anomalies/mental retardation (MCA/MR) syndrome due to del(2)(q32) in two sisters with intrachromosomal insertional translocation in their father.

Authors:  G S Pai; J F Rogers; A Sommer
Journal:  Am J Med Genet       Date:  1983-01

5.  Interstitial deletion of the long arm of chromosome 2 (q31q33) in a girl with multiple anomalies and mental retardation.

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

Review 6.  Interstitial deletion of the long arm of chromosome 2: case report and review of literature.

Authors:  K Taysi; D R Dengler; L A Jones; J R Heersma
Journal:  Ann Genet       Date:  1981

7.  Deletion 2q: two new cases with karyotypes 46,XY,del(2)(q31q33) and 46,XX,del(2)(q36).

Authors:  R S Young; S D Shapiro; K L Hansen; L K Hine; D E Rainosek; F A Guerra
Journal:  J Med Genet       Date:  1983-06       Impact factor: 6.318

8.  Interstitial deletion 2q31 leads to q33.

Authors:  P D Buchanan; R L Rhodes; C E Stevenson
Journal:  Am J Med Genet       Date:  1983-05
  8 in total
  6 in total

Review 1.  Genetic Screening in Patients with Craniofacial Malformations.

Authors:  Amanda J Yoon; Binh N Pham; Katrina M Dipple
Journal:  J Pediatr Genet       Date:  2016-09-14

2.  Waardenburg syndrome (WS): the analysis of a single family with a WS1 mutation showing linkage to RFLP markers on human chromosome 2q.

Authors:  J H Asher; R Morell; T B Friedman
Journal:  Am J Hum Genet       Date:  1991-01       Impact factor: 11.025

3.  Mouse and hamster mutants as models for Waardenburg syndromes in humans.

Authors:  J H Asher; T B Friedman
Journal:  J Med Genet       Date:  1990-10       Impact factor: 6.318

4.  Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome.

Authors:  Jill A Rosenfeld; Blake C Ballif; Ann Lucas; Edward J Spence; Cynthia Powell; Arthur S Aylsworth; Beth A Torchia; Lisa G Shaffer
Journal:  PLoS One       Date:  2009-08-10       Impact factor: 3.240

5.  Regional specific differentiation of integumentary organs: SATB2 is involved in α- and β-keratin gene cluster switching in the chicken.

Authors:  Gee-Way Lin; Ya-Chen Liang; Ping Wu; Chih-Kuan Chen; Yung-Chih Lai; Ting-Xin Jiang; Yen-Hua Haung; Cheng-Ming Chuong
Journal:  Dev Dyn       Date:  2021-07-17       Impact factor: 2.842

Review 6.  SATB2-associated syndrome: Mechanisms, phenotype, and practical recommendations.

Authors:  Yuri A Zarate; Jennifer L Fish
Journal:  Am J Med Genet A       Date:  2016-10-24       Impact factor: 2.802
  6 in total

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