Case with terminal deletion of chromosome 14 and DiGeorge syndrome resulted from unbalanced translocation involving chromosomes 14 and 22 detected by FISH and array-CGH

VRANOVÁ, Vladimíra, Iva SLÁMOVÁ, Marta HANÁKOVÁ and Petr KUGLÍK. Case with terminal deletion of chromosome 14 and DiGeorge syndrome resulted from unbalanced translocation involving chromosomes 14 and 22 detected by FISH and array-CGH. Abbott Molecular Newsletter. 2006, vol. 3, No 1, p. 16-17.

Basic information

• Original name: Case with terminal deletion of chromosome 14 and DiGeorge syndrome resulted from unbalanced translocation involving chromosomes 14 and 22 detected by FISH and array-CGH
• Name in Czech: Kazuistika pacienta postiženého terminální delecí chromozomu 14 a DïGeorgeovým syndromem v důsledku nebalancované translokace chromozomů 14 a 22 detegované metodami FISH a array-CGH
• Authors: VRANOVÁ, Vladimíra (703 Slovakia), Iva SLÁMOVÁ (203 Czech Republic), Marta HANÁKOVÁ (203 Czech Republic) and Petr KUGLÍK (203 Czech Republic, guarantor).
• Edition: Abbott Molecular Newsletter, 2006.

Other information

• Original language: English
• Type of outcome: Article in a journal
• Field of Study: Genetics and molecular biology
• Country of publisher: United Kingdom of Great Britain and Northern Ireland
• Confidentiality degree: is not subject to a state or trade secret
• RIV identification code: RIV/00216224:14310/06:00017763
• Organization unit: Faculty of Science
• Keywords in English: Facial dysmorphism; DiGeorge syndrom; unbalanced translocation; FISH; array-CGH; GenoSenzor Array300
• Tags: array-CGH, DiGeorge syndrom, Facial dysmorphism, FISH, GenoSenzor Array300, unbalanced translocation

Abstract

This study describes the case of 6 month old boy with terminal deletion of chromosome 14 and DiGeorge syndrome resulted from unbalanced translocation involving chromosomes 14 and 22 detected by FISH and array-CGH.

Abstract (in Czech)

Je prezentována kazuistika 6 měsíčního pacienta postiženého četnými vrozenými vývojovými vadami, u kterého byly metodou FISH a array-CGH prokázána terminální delece chromozomu 14 a zároveň delece v oblasti 22q11 (DiGeorgeův syndrom).

Links

• MSM0021622415, plan (intention): Name: Molekulární podstata buněčných a tkáňových regulací

Investor: Ministry of Education, Youth and Sports of the CR, Molecular basis of cell and tissue regulations