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12q14 Microdeletions: Additional Case Series with Confirmation of a Macrocephaly Region
Joint Authors
Sharpe, Cynthia
Smith, Warwick
Hayes, Ian
George, Alice M.
Mc Cormack, Adrian
Gregersen, Nerine
Love, Donald R.
Source
Issue
Vol. 2015, Issue 2015 (31 Dec. 2015), pp.1-7, 7 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2015-07-22
Country of Publication
Egypt
No. of Pages
7
Main Subjects
Abstract EN
To date, there have been only a few reports of patients carrying a microdeletion in chromosome 12q14.
These patients usually present with pre- and postnatal growth retardation, and developmental delay.
Here we report on two additional patients with both genotype and phenotype differences.
Similar to previously published cases, one patient has haploinsufficiency of the HMGA2 gene and shows severe short stature and developmental delay.
The second patient is only one of a handful without the loss of the HMGA2 gene and shows a much better growth profile, but with absolute macrocephaly.
This patient’s deletion is unique and hence defines a likely macrocephaly locus that contributes to the general phenotype characterising the 12q14 syndrome.
American Psychological Association (APA)
Mc Cormack, Adrian& Sharpe, Cynthia& Gregersen, Nerine& Smith, Warwick& Hayes, Ian& George, Alice M.…[et al.]. 2015. 12q14 Microdeletions: Additional Case Series with Confirmation of a Macrocephaly Region. Case Reports in Genetics،Vol. 2015, no. 2015, pp.1-7.
https://search.emarefa.net/detail/BIM-1058498
Modern Language Association (MLA)
Mc Cormack, Adrian…[et al.]. 12q14 Microdeletions: Additional Case Series with Confirmation of a Macrocephaly Region. Case Reports in Genetics No. 2015 (2015), pp.1-7.
https://search.emarefa.net/detail/BIM-1058498
American Medical Association (AMA)
Mc Cormack, Adrian& Sharpe, Cynthia& Gregersen, Nerine& Smith, Warwick& Hayes, Ian& George, Alice M.…[et al.]. 12q14 Microdeletions: Additional Case Series with Confirmation of a Macrocephaly Region. Case Reports in Genetics. 2015. Vol. 2015, no. 2015, pp.1-7.
https://search.emarefa.net/detail/BIM-1058498
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1058498