Journal article
Apparent Germline Mosaicism for a Novel 19p13.13 Deletion Disrupting NFIX and CACNA1A
American journal of medical genetics. Part A, Vol.161(5), pp.1105-1109
05/2013
DOI: 10.1002/ajmg.a.35790
PMID: 23495138
Abstract
We report on a case of apparent germline mosaicism in a family of two sisters carrying a novel 19p13.13 deletion. The 11‐year‐old proposita was referred for evaluation of macrocephaly, moderate intellectual disability (ID), and episodic ataxia. Array comparative genomic hybridization (CGH) detected a 399 kb microdeletion with breakpoints within genes NFIX and CACNA1A. A similar deletion was also seen in the elder sibling who presented with macrocephaly, ID, and strabismus. The deletions were confirmed to be de novo after the parental aCGH analysis suggesting that this is an example of germinal mosaicism. This study contributes additional information for the newly identified 19p13 deletion syndrome and clarifies the clinical roles of genes in the involved region. This case of apparent germline mosaicism represents the only known family in the cohort of 1,800 patients analyzed by our group. © 2013 Wiley Periodicals, Inc.
Details
- Title: Subtitle
- Apparent Germline Mosaicism for a Novel 19p13.13 Deletion Disrupting NFIX and CACNA1A
- Creators
- Manjunath Nimmakayalu - University of Iowa Hospitals and ClinicsV. Kim Horton - University of Iowa Hospitals and ClinicsBen Darbro - University of Iowa Hospitals and ClinicsShivanand R Patil - University of Iowa Hospitals and ClinicsHamza Alsayouf - Mercy Medical CenterKim Keppler‐Noreuil - University of Iowa Hospitals and ClinicsOleg A Shchelochkov - University of Iowa Hospitals and Clinics
- Resource Type
- Journal article
- Publication Details
- American journal of medical genetics. Part A, Vol.161(5), pp.1105-1109
- DOI
- 10.1002/ajmg.a.35790
- PMID
- 23495138
- ISSN
- 1552-4825
- eISSN
- 1552-4833
- Number of pages
- 5
- Language
- English
- Date published
- 05/2013
- Academic Unit
- Stead Family Department of Pediatrics; Medical Genetics and Genomics
- Record Identifier
- 9984093362302771
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