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Case Reports
. 2012 Sep 7:5:93-6.
doi: 10.2147/TACG.S35799. Print 2012.

Clinical and molecular characterization of a patient with a combination of a deletion and a duplication of 22q13 using array CGH

Isabel Ochando  1 , Antonio Urbano, Juana Rubio, Joaquín Rueda
Affiliations
Case Reports

Clinical and molecular characterization of a patient with a combination of a deletion and a duplication of 22q13 using array CGH

Isabel Ochando et al. Appl Clin Genet. .

Abstract

Phelan-McDermid syndrome is caused by the loss of terminal regions of different sizes at 22q13. There is a wide range of severity of symptoms in patients with a 22q13 deletion, but these patients usually show neonatal hypotonia, global developmental delay, and dysmorphic traits. We carried out a clinical and molecular characterization of a patient with neonatal hypotonia and dysmorphic features. Array-based comparative genomic hybridization showed an 8.24 Mb terminal deletion associated with a 0.20 Mb duplication. Characterization of patients with Phelan-McDermid syndrome both clinically and at the molecular level allows genotype-phenotype correlations that provide clues to help elucidate the clinical implications.

Keywords: 22q13 deletion; Phelan-McDermid syndrome; genotype-phenotype correlations; subtelomeric rearrangements.

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Figures

Figure 1
Figure 1
Dysmorphic features of patient described in this study. (A) Short webbed neck. (B) Large extremities, left talus valgus deformity, large penis and testes.
Figure 2
Figure 2
Characterization of the deletion: cytogenetic and molecular studies. (A) Conventional G-banding chromosome 22. The deleted chromosome is on the right. (B) CGH-array. Reduced dosage for probes is shown to the left of the control two-copy line and increased dosage is shown to the right. Abbreviation: CGH, comparative genomic hybridization.
See this image and copyright information in PMC

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