title: Deletion of 14.7 Mb 2q32.3q33.3 with a marfanoid phenotype and hypothyroidism.
abstract: Interstitial 2q deletions are very rare chromosome abnormalities. The 2q32q33 deletion was proposed as a distinct entity with characteristic phenotype. Most patients have feeding problems, growth restriction, moderate to severe developmental delay, speech delay or lack of speech, high, prominent forehead, thin sparse hair, teeth abnormalities and a high or cleft palate. We report on another rare case of interstitial 2q33 deletion found during routine karyotyping and further characterized by the use of a genomic SNP array. The patient presented here has a "Marfanoid" phenotype, hypothyroidism, and a marked tactile hypersensitivity. We concluded that hypothyroidism might be caused by the deletion of the CD28 and/or CTLA4 genes; also cardiological monitoring of patients with the deletion including BMPR2 may be considered in order to prevent the possible medical complications associated with pulmonary hypertension.
authors.affiliation: Prenatal Diagnostics and Genetic Clinic, Medical University of Silesia, Zabrze, Poland.
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Tomaszewska
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Podbiol-Palenta
authors.forename: Marjan
authors.initials: M
authors.lastname: Boter
authors.forename: Gabriela
authors.initials: G
authors.lastname: Geisler
authors.forename: Angelika
authors.initials: A
authors.lastname: Wawrzkiewicz-Witkowska
authors.forename: Robert-Jan H
authors.initials: RJ
authors.lastname: Galjaard
authors.forename: Stanislaw
authors.initials: S
authors.lastname: Zajączek
authors.forename: Malgorzata I
authors.initials: MI
authors.lastname: Srebniak
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002889:Chromosomes, Human, Pair 2; D055028:Comparative Genomic Hybridization; D019066:Facies; D006801:Humans; D007037:Hypothyroidism / Q000235:genetics*; D007223:Infant; D008297:Male; D010641:Phenotype
keywords: 2q32q33 deletion; BMPR2; SNP array; growth deficiency; hypothyroidism; mental disability; speech delay; tactile hypersensitivity