Conflict of interest: None.
Deletion of 14.7 Mb 2q32.3q33.3 with a marfanoid phenotype and hypothyroidism
Article first published online: 5 AUG 2013
Copyright © 2013 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 161, Issue 9, pages 2347–2351, September 2013
How to Cite
2013. Deletion of 14.7 Mb 2q32.3q33.3 with a marfanoid phenotype and hypothyroidism. Am J Med Genet Part A 161A:2347–2351., , , , , , , .
- Issue published online: 14 AUG 2013
- Article first published online: 5 AUG 2013
- Manuscript Accepted: 8 MAY 2013
- Manuscript Received: 3 OCT 2012
- 2q32q33 deletion;
- SNP array;
- growth deficiency;
- mental disability;
- speech delay;
- tactile hypersensitivity;
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. © 2013 Wiley Periodicals, Inc.