| 3p Interstitial Deletion: Novel Case Report and Review. | |
| | |
MedLine Citation:
|
PMID: 22290856 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
|
3p interstitial deletions have emerged in recent years as a new cause of neurodevelopmental delay and intellectual disability. Since the first report of this condition in 1979, 16 cases have been described in the literature, delineating it as a presumptive syndrome. Here, we add a novel case presenting severely delayed neurodevelopment and psychomotor development; facial dysmorphism (square facies, broad forehead, short palpebral fissures, epicanthic folds, broad nasal bridge, and low-set malformed ears); cerebral, cardiac, and genital malformations; hand and feet anomalies; sacral sinus; and hearing impairment. Genetic investigations revealed a del(3)(p12.3p14.1) of 12.5 Mb, including 31 ORFs, among which ROBO2, PDZRN3, MITF, and FOXP1 are known to act in neurodevelopment. The clinical features of our patient are compared with those previously reported in the literature, thus providing further support for the delineation of the 3p interstitial deletion syndrome. |
| | |
Authors:
|
Andreea Cristina Tutulan-Cunita; Sorina Mihaela Papuc; Aurora Arghir; Katharina Magdalena Rötzer; Charulata Deshpande; Agripina Lungeanu; Magdalena Budisteanu |
Related Documents
:
|
22328846 - Medullary thyroid cancer and pseudocirrhosis: case report and literature review. 22316326 - Cutaneous bacillary angiomatosis in renal transplant recipients: report of three new ca... 22486196 - Early use of hemodialysis for active rewarming in severe hypothermia: a case report and... 18495646 - Major self-mutilation in the first episode of psychosis. 17345586 - Prenatal sonographic findings and hematological abnormalities in fetuses with transient... 4091056 - Mycopathology of cerebral mycosis. |
Publication Detail:
|
Type: JOURNAL ARTICLE Date: 2012-1-30 |
Journal Detail:
|
Title: Journal of child neurology Volume: - ISSN: 1708-8283 ISO Abbreviation: - Publication Date: 2012 Jan |
Date Detail:
|
Created Date: 2012-1-31 Completed Date: - Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 8606714 Medline TA: J Child Neurol Country: - |
Other Details:
|
Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
|
"Victor Babes" National Institute of Pathology, Bucharest, Romania. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
|
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Bilateral Mental Nerve Neuropathy in an Adolescent During Sickle Cell Crises.
Next Document: Abnormal Myelination in Ring Chromosome 18 Syndrome.