Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 FRAXF in a patient with chromosome 8 duplication.

Literature DB >> 8818952

FRAXF in a patient with chromosome 8 duplication.

A M Vianna-Morgante¹, R C Mingroni-Netto, A C Barbosa, P A Otto, C Rosenberg.

Abstract

We report on a folate sensitive fragile site at Xq27-28 in a girl with a multiple congenital anomalies and mental retardation syndrome, who also carries a duplication of the long arm of chromosome 8. The fragile site was shown by FISH to be distal to both FRAXA and FRAXE. DNA hybridisation with probe OxF14 showed the amplification of the CGG repeats of locus FRAXF in the patient and in her clinically normal mother.

Entities: Chemical Disease Gene Species

Mesh：

Substances：

Year: 1996 PMID： 8818952 PMCID： PMC1050674 DOI： 10.1136/jmg.33.7.611

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

20 in total

Review 1. Fragile site Xq27.3 in a family without mental retardation.

Authors: D R Romain; C J Chapman
Journal: Clin Genet Date: 1992-01 Impact factor: 4.438

2. Partial trisomy 8q in half-sisters with distinct dysmorphic patterns not similar to the trisomy 8 mosaicism syndrome.

Authors: A Schinzel
Journal: Hum Genet Date: 1977-06-10 Impact factor: 4.132

3. Identification of the FRAXE fragile site in two families ascertained for X linked mental retardation.

Authors: G A Flynn; M C Hirst; S J Knight; J N Macpherson; J C Barber; A V Flannery; K E Davies; V J Buckle
Journal: J Med Genet Date: 1993-02 Impact factor: 6.318

4. Natural history of the recombinant (8) syndrome.

Authors: E Sujansky; A C Smith; K E Prescott; C L Freehauf; C Clericuzio; A Robinson
Journal: Am J Med Genet Date: 1993-09-15

5. The cloning of FRAXF: trinucleotide repeat expansion and methylation at a third fragile site in distal Xqter.

Authors: R J Ritchie; S J Knight; M C Hirst; P K Grewal; M Bobrow; G S Cross; K E Davies
Journal: Hum Mol Genet Date: 1994-12 Impact factor: 6.150

6. High resolution replication banding combined with in situ hybridization for the delineation of a subtle chromosome rearrangement.

Authors: M B Qumsiyeh; R S Wilroy; J N Peeden; A T Tharapel
Journal: Am J Med Genet Date: 1991-10-01

FRAXF in a patient with chromosome 8 duplication.

Review 1. Fragile site Xq27.3 in a family without mental retardation.

2. Partial trisomy 8q in half-sisters with distinct dysmorphic patterns not similar to the trisomy 8 mosaicism syndrome.

3. Identification of the FRAXE fragile site in two families ascertained for X linked mental retardation.

4. Natural history of the recombinant (8) syndrome.

5. The cloning of FRAXF: trinucleotide repeat expansion and methylation at a third fragile site in distal Xqter.

6. High resolution replication banding combined with in situ hybridization for the delineation of a subtle chromosome rearrangement.

7. The identification of a third fragile site, FRAXF, in Xq27--q28 distal to both FRAXA and FRAXE.

8. Molecular heterogeneity of the fragile X syndrome.

9. Intragenic reorganization of RB1 in a complex (4;13) rearrangement demonstrated by FISH.

10. Characterisation of a new rare fragile site easily confused with the fragile X.

Review 1. Fragility Extraordinaire: Unsolved Mysteries of Chromosome Fragile Sites.