Mosaic 22q11.2 Microdeletion Syndrome: Diagnosis and Clinical Manifestations of Two Cases

Overview

Journal Mol Cytogenet

Publisher Biomed Central

Specialty Biochemistry

Date 2008 Aug 12

PMID 18691436

Citations 13

Authors

Ashutosh Halder

Manish Jain

Madhulika Kabra

Neerja Gupta

Affiliations

Soon will be listed here.

Abstract

Chromosome 22q11.2 microdeletion syndrome is due to microdeletion of 22q11.2 region of chromosome 22. It is a common microdeletion syndrome however mosaic cases are very rare and reported only few previous occasions. In this report we describe two unrelated male children with clinical features consistent with 22q11.2 microdeletion syndrome characterized by cardiac defect, facial dysmorphism and developmental deficiency. One of the cases also had trigonocephaly. Interphase & metaphase FISH with 22q11.2 probe demonstrated mosaicism for hemizygous deletion of 22q11.2 region. Mosaicism is also observed in buccal cells as well as urine cells. Parents were without any deletion. These two cases represent rare cases of mosaic 22q11.2 microdeletion syndrome.

Citing Articles

A rare mosaic 22q11.2 microdeletion identified in a Chinese family with recurrent fetal conotruncal defects.

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SNP Microarray in FISH Negative Clinically Suspected 22q11.2 Microdeletion Syndrome.

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Developmental trajectories in 22q11.2 deletion.

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Molecular screening for 22Q11.2 deletion syndrome in patients with congenital heart disease.

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Fluorescence in situ hybridization (FISH) using non-commercial probes in the diagnosis of clinically suspected microdeletion syndromes.

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