| The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome: report on two patients and review of the literature. | |
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MedLine Citation:
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PMID: 19328248 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Nablus mask-like facial syndrome (NMFLS) is a rare microdeletion syndrome with a mask-like facial appearance as the most characteristic feature. In 2000, Teebi, was the first to report on a 4 years old boy affected with NMFLS. Since then two additional patients have been reported. Three years later, with the development of the array CGH technology, Shieh et al., elucidated the etiology of NMFLS by showing that the two patients studied share a approximately 4 Mb microdeletion in the long arm of chromosome 8 (q21.3-q22.1). Here we report on two NMFLS patients among which the first patient described by Teebi in 2000, and present newly described clinical findings including the common happy behaviour of the children. Array CGH analysis of these two patients permitted to reveal a deletion in the same region, 8q21.3-q22.1. Combining the available literature and our data, we were able to narrow the common deleted region to 2.78 Mb (93.56-96.34 Mb) in 8q22.1. Direct relations between the clinical findings with (one of) the genes in the critical region have to await further studies on NFMLS patients with overlapping or smaller deletions. |
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Authors:
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Annick Raas-Rothschild; Trijnie Dijkhuizen; Birgit Sikkema-Raddatz; Marion Werner; Judith Dagan; Devorah Abeliovich; Israela Lerer |
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Publication Detail:
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Type: Case Reports; Journal Article; Review Date: 2009-03-26 |
Journal Detail:
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Title: European journal of medical genetics Volume: 52 ISSN: 1878-0849 ISO Abbreviation: Eur J Med Genet Publication Date: 2009 Mar-Jun |
Date Detail:
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Created Date: 2009-05-15 Completed Date: 2009-09-01 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101247089 Medline TA: Eur J Med Genet Country: Netherlands |
Other Details:
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Languages: eng Pagination: 140-4 Citation Subset: IM |
Affiliation:
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Department of Human Genetics, Hadassah Hebrew University Medical Center, Jerusalem 91120, Israel. annick@hadassah.org.il |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Child, Preschool Chromosome Deletion* Chromosome Disorders / genetics* Chromosomes, Human, Pair 8 / genetics* Comparative Genomic Hybridization Face / abnormalities* Happiness Humans Male Syndrome |
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