NDLI: Microduplication 3q13.2q13.31 identified in a male with dysmorphic features and multiple congenital anomalies.

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Microduplication 3q13.2q13.31 identified in a male with dysmorphic features and multiple congenital anomalies.

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Microduplication 3q13.2q13.31 identified in a male with dysmorphic features and multiple congenital anomalies.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Karavitakis, Emmanouil Kitsiou-Tzeli, Sofia Xaidara, Athena Kosma, Konstantina Makrythanasis, Periklis Apazidou, Eleni Kanavakis, Emmanuel Tzetis, Maria
Description	Country affiliation: Greece Author Affiliation: Karavitakis E ( Neonatal Special Care Unit, General Hospital of Chania, Crete, Greece.)
Abstract	Constitutional microdeletions affecting 3q13.2q13.31 are rare and attempts for genotype-phenotype correlations have only recently been made in a cohort of 28 patients. The major phenotypic features of this rare syndrome are hypotonia, developmental delay, and facial anomalies. In this study, we report on a male infant with a novel reciprocal 3.671 Mb microduplication at the genomic region 3q13.2q13.31 associated with dysmorphic features and multiple congenital anomalies. The current patient was investigated by high-resolution array comparative genomic hybridization (aCGH). This is the first report of a microduplication 3q13.2q13.31 that shares a lot of common clinical features with those carrying the microdeletion. The 3q13.2q13.31 duplicated region in our patient contains nine dosage sensitive genes, amongst them the genes ATG3, CCDC80, KIAA2018, NAA50, ZDHHC23, DRD3, ZBTB20, GAP43, LSAMP. As it is the case for many other well-described reciprocal deletion/duplication syndromes, some have very different clinical features (Williams-Beuren deletion syndrome, WBS/WBS triplication) [Somerville et al. (2005); N Engl J Med 353:1694-1701], while others share similar phenotypic features (22q11.2 microdeletion/microduplication) [Portnoi (2009); Eur J Med Genet 52:88-93]. In conclusion, we describe the main phenotypic features of a possibly novel microduplication 3q13.2q13.31 syndrome. Additionally five of the dosage-sensitive genes and BOC gene are suggested to be responsible for the main phenotypic features. Evaluation of multiple patients with the microduplication is needed for full delineation of this syndrome.
File Format	HTM / HTML
ISSN	15524825
Issue Number	3
Volume Number	164A
e-ISSN	15524833
Journal	American Journal of Medical Genetics Part A
Language	English
Publisher	Wiley-Blackwell
Publisher Date	2014-03-01
Publisher Place	United States
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Discipline Human Discipline Genetics Abnormalities, Multiple Diagnosis Genetics Chromosome Duplication Chromosomes, Human, Pair 2 Chromosomes, Human, Pair 3 Comparative Genomic Hybridization Genetic Association Studies Humans Infant Male Phenotype Case Reports Journal Article
Content Type	Text
Resource Type	Article Case study
Subject	Genetics Genetics (clinical)

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