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Two cases of deletion 2q37 associated with segregation of an unbalanced translocation 2;21: choanal atresia leading to misdiagnosis of CHARGE syndrome

¹ Endocrinology and Diabetes Research Group, Molecular Genetics Lab, Hospital de Cruces, Cruces-Barakaldo E48903, Bizkaia, Basque Country, Spain² Pediatric Endocrinology Unit, Department of Pediatrics, Hospital Clínico Universitario San Carlos, Madrid, Spain³ Molecular Genetics Lab of Service of Biochemistry, Hospital de Cruces, Barakaldo, Bizkaia, Spain⁴ Department of Clinical Genetics, Hospital Clínico Universitario San Carlos, Madrid, Spain⁵ Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Barakaldo, Bizkaia, Spain

(Correspondence should be addressed to G Perez de Nanclares; Email: gnanclares{at}osakidetza.net)

Abstract

Context: The phenotypic variability of patients with syndromes presenting with dysmorphism makes clinical diagnosis difficult, leading to an exhaustive genetic study to determine the underlying mechanism so that a proper diagnosis could be established.

Objective: To genetically characterize siblings, the older sister diagnosed with Albright hereditary osteodystrophy and the younger one with CHARGE syndrome.

Design: Clinical case report.

Methods: Clinical, biochemical, and radiological studies were performed on the family. In addition, molecular genetic studies including sequencing of GNAS, typing of microsatellites on 2q and 21q, and multiplex ligation-dependent probe amplification of subtelomeric regions were performed, as well as confirmatory fluorescent in situ hybridization analysis.

Results: The genetic analysis revealed that both sisters presented a 2q37 deletion due to the maternal unbalanced segregation of a 2;21 translocation.

Conclusions: This is the first report of a 2q37 deletion where differential diagnosis of CHARGE syndrome is needed due to the appearance of choanal atresia.