NDLI: Deletion of 14.7 Mb 2q32.3q33.3 with a marfanoid phenotype and hypothyroidism.

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Deletion of 14.7 Mb 2q32.3q33.3 with a marfanoid phenotype and hypothyroidism.

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Deletion of 14.7 Mb 2q32.3q33.3 with a marfanoid phenotype and hypothyroidism.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Tomaszewska, Agnieszka Podbiol-Palenta, Agnieszka Boter, Marjan Geisler, Gabriela Wawrzkiewicz-Witkowska, Angelika Galjaard, Robert-Jan H. Zajaczek, Stanislaw Srebniak, Malgorzata I.
Description	Country affiliation: Poland Author Affiliation: Tomaszewska A ( Prenatal Diagnostics and Genetic Clinic, Medical University of Silesia, Zabrze, Poland.)
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.
File Format	HTM / HTML
ISSN	15524825
Issue Number	9
Volume Number	161A
e-ISSN	15524833
Journal	American Journal of Medical Genetics Part A
Language	English
Publisher	Wiley-Blackwell
Publisher Date	2013-09-01
Publisher Place	United States
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Discipline Human Discipline Genetics Chromosome Deletion Chromosomes, Human, Pair 2 Hypothyroidism Genetics Phenotype Abnormalities, Multiple Diagnosis Chromosome Banding Chromosome Mapping Comparative Genomic Hybridization Facies Humans Infant Male Case Reports Journal Article
Content Type	Text
Resource Type	Article Case study
Subject	Genetics Genetics (clinical)

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