| A novel Xp22.11 deletion causing a syndrome of craniosynostosis and periventricular nodular heterotopia. | |
| | |
MedLine Citation:
|
PMID: 22052819 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
|
We report on a follow-up evaluation of a male with a phenotype including craniosynostosis, periventricular nodular heterotopia, and neurodevelopmental delay. He was initially assigned a clinical diagnosis of Fontaine-Farriaux syndrome (FFS) as an infant although now, with improved delineation of this entity, it is evident that this diagnosis is not applicable to this individual. Array comparative genomic hybridization has demonstrated a 300 kb interstitial deletion on Xp22.11 affecting all or part of three annotated genes, ZFX, PDK3, and PCYT1B in this subject. The deletion was inherited from the phenotypically normal mother who also exhibited markedly skewed X-inactivation. These findings implicate hemizygosity for one or all three of these genes as the cause of this phenotype. © 2011 Wiley Periodicals, Inc. |
| | |
Authors:
|
Margriet van Kogelenberg; Margherita Lerone; Teresa De Toni; Maria T Divizia; Arjan P M de Brouwer; Joris A Veltman; Hans van Bokhoven; Stephen P Robertson |
Related Documents
:
|
6214719 - Syndromes of accelerated aging. 22510769 - Spontaneous resolution of hypereosinophilic syndrome in an infant without treatment. 2878699 - Subcortical dementia. neuropsychology, neuropsychiatry, and pathophysiology. 21984749 - Association between deletion size and important phenotypes expands the genomic region o... 22303799 - Mucocutaneous disorders in children with down syndrome: case-controlled study. 8555719 - Behavioural disturbance in people with down's syndrome and dementia. 22042579 - Contarini's syndrome: bilateral pleural effusion, each side from different causes. 10373129 - Feeding difficulties and foregut dysmotility in noonan's syndrome. 9583779 - Varicella-zoster virus distribution in ramsay hunt syndrome revealed by polymerase chai... |
Publication Detail:
|
Type: LETTER Date: 2011-11-3 |
Journal Detail:
|
Title: American journal of medical genetics. Part A Volume: - ISSN: 1552-4833 ISO Abbreviation: - Publication Date: 2011 Nov |
Date Detail:
|
Created Date: 2011-11-4 Completed Date: - Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: - |
Other Details:
|
Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
|
Copyright © 2011 Wiley Periodicals, Inc. |
Affiliation:
|
Department of Paediatrics and Child Health, Dunedin School of Medicine, Otago University, Dunedin, New Zealand. |
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: Effect of Zn doping in hole-type 1111 phase (Pr, Sr)FeAsO.
Next Document: Self-Assembly of Linear and Cyclic Siloxane-Containing Mesogens: Investigation of Layered Structures...