A cryptic unbalanced translocation t(2;9)(p25.2;q34.3) causes the phenotype of 9q subtelomeric deletion syndrome and additional exophthalmos and joint contractures

Monosomy 1p36 is considered the most common subtelomeric deletion syndrome in humans and it accounts for 0.5–0.7% of all the cases of idiopathic intellectual disability. The molecular diagnosis is often made by microarray-based comparative genomic hybridization (aCGH), which has the drawback of being a high-cost technique. However, patients with classic monosomy 1p36 share some typical clinical characteristics that, together with its common prevalence, justify the development of a less expensive, targeted diagnostic method. In this study, we developed a simple, rapid, and inexpensive real-time quantitative PCR (qPCR) assay for targeted diagnosis of monosomy 1p36, easily accessible for low-budget laboratories in developing countries. For this, we have chosen two target genes which are deleted in the majority of patients with monosomy 1p36:PRKCZandSKI. In total, 39 patients previously diagnosed with monosomy 1p36 by aCGH, fluorescentin situhybridization (FISH), and/or multiplex ligation-dependent probe amplification (MLPA) all tested positive on our qPCR assay. By simultaneously using these two genes we have been able to detect 1p36 deletions with 100% sensitivity and 100% specificity. We conclude that qPCR ofPRKCZandSKIis a fast and accurate diagnostic test for monosomy 1p36, costing less than 10 US dollars in reagent costs.

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A novel 5q35.3 subtelomeric deletion syndrome

American Journal of Medical Genetics Part A ◽

10.1002/ajmg.a.20173 ◽

2003 ◽

Vol 121A (1) ◽

pp. 1-8 ◽

Cited By ~ 24

Author(s):

Anita Rauch ◽

Maike Beese ◽

Ertan Mayatepek ◽

Helmut-Günther Dörr ◽

Dieter Wenzel ◽

...

Keyword(s):

Deletion Syndrome ◽

Subtelomeric Deletion

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9q subtelomeric deletion syndrome with diaphragmatic hernia

American Journal of Medical Genetics Part A ◽

10.1002/ajmg.a.32823 ◽

2009 ◽

Vol 149A (5) ◽

pp. 1086-1088

Author(s):

Laura L. Klitten ◽

Niels Tommerup ◽

Helle Hjalgrim ◽

Rikke S. Møller

Keyword(s):

Diaphragmatic Hernia ◽

Deletion Syndrome ◽

Subtelomeric Deletion

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Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype

Journal of Medical Genetics ◽

10.1136/jmg.2008.062950 ◽

2009 ◽

Vol 46 (9) ◽

pp. 598-606 ◽

Cited By ~ 124

Author(s):

T Kleefstra ◽

W A van Zelst-Stams ◽

W M Nillesen ◽

V Cormier-Daire ◽

G Houge ◽

...

Keyword(s):

Deletion Syndrome ◽

The Core ◽

Subtelomeric Deletion

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Miller-Dieker Syndrome due to a 5.5-Mb 17p Deletion in a 17;Y Pseudodicentric Chromosome

Cytogenetic and Genome Research ◽

10.1159/000477920 ◽

2017 ◽

Vol 152 (1) ◽

pp. 29-32 ◽

Cited By ~ 1

Author(s):

Fernanda T. Bellucco ◽

Natália Nunes ◽

Mileny E.S. Colovati ◽

Andréa C.M. Malinverni ◽

Thamy P. Caneloi ◽

...

Keyword(s):

Gene Deletion ◽

De Novo ◽

Male Infant ◽

Clinical Findings ◽

Deletion Syndrome ◽

Major Influence ◽

Unbalanced Translocation ◽

Contiguous Gene ◽

Almost All ◽

Contiguous Gene Deletion Syndrome

Miller-Dieker syndrome (MDS) is a contiguous gene deletion syndrome in which almost all patients present de novo 17p13.3 deletions. We report on a male infant with MDS and an unusual unbalanced translocation involving chromosomes Y and 17 that resulted in a large 5.5-Mb 17pterp13.2 deletion and a karyotype with 45 chromosomes. Apart from the deletion of the MDS critical region, the deletion of additional distal genes seemed to have no major influence on the patient's phenotype, since he did not show any unusual clinical findings that are not commonly described in MDS patients.

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