Journal article
Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region
Human molecular genetics, Vol.18(8), pp.1377-1383
04/15/2009
Handle:
https://hdl.handle.net/2376/114042
PMCID: PMC2664143
PMID: 19193630
Abstract
Deletions of the 22q11.2 region distal to the 22q11.21 microdeletion syndrome region have recently been described in individuals with mental retardation and congenital anomalies. Because these deletions are mediated by low-copy repeats (LCRs), located distal to the 22q11.21 DiGeorge/velocardiofacial microdeletion region, duplications are predicted to occur with a frequency equal to the deletion. However, few microduplications of this region have been reported. We report the identification of 18 individuals with microduplications of 22q11.21-q11.23. The duplication boundaries for all individuals are within LCRs distal to the DiGeorge/velocardiofacial microdeletion region. Clinical records for nine subjects reveal shared characteristics, but also several examples of contradicting clinical features (e.g. macrocephaly versus microcephaly and upslanting versus downslanting palpebral fissures). Of 12 cases for whom parental DNA samples were available for testing, one is de novo and 11 inherited the microduplication from a parent, three of whom reportedly have learning problems or developmental delay. The variable phenotypes and preponderance of familial cases obfuscate the clinical relevance of the molecular data and emphasize the need for careful parental assessments and clinical correlations.
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Details
- Title
- Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region
- Creators
- Justine Coppinger - 1 Signature Genomic Laboratories, LLC, 2820 N. Astor St., Spokane, WA 99207, USADonna McDonald-McGinn - 2 Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USAElaine Zackai - 2 Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USAKate Shane - 3 Department of Pediatrics, Nationwide Children's Hospital, The Ohio State University, Columbus, OH, USAJoan F Atkin - 3 Department of Pediatrics, Nationwide Children's Hospital, The Ohio State University, Columbus, OH, USAAlexander Asamoah - 4 Weisskopf Child Evaluation Center, University of Louisville, Louisville, KY, USARobert Leland - 5 Cheyenne Children's Clinic, Cheyenne, WY, USADavid D Weaver - 6 Department of Molecular and Human Genetics, Indiana University School of Medicine, Indianapolis, IN, USASusan Lansky-Shafer - 7 Department of Medical Genetics, Carle Clinic, Bloomington, IL, USAKaren Schmidt - 8 Department of Medical Genetics, Children's Hospital of Pittsburgh, Pittsburgh, PA, USAHeidi Feldman - 8 Department of Medical Genetics, Children's Hospital of Pittsburgh, Pittsburgh, PA, USAWilliam Cohen - 8 Department of Medical Genetics, Children's Hospital of Pittsburgh, Pittsburgh, PA, USAJudy Phalin - 9 Children's Hospital Central California, Madera, CA, USABerkley Powell - 9 Children's Hospital Central California, Madera, CA, USABlake C Ballif - 1 Signature Genomic Laboratories, LLC, 2820 N. Astor St., Spokane, WA 99207, USAAaron Theisen - 1 Signature Genomic Laboratories, LLC, 2820 N. Astor St., Spokane, WA 99207, USAElizabeth Geiger - 2 Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USAChad Haldeman-Englert - 2 Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USATamim H Shaikh - 2 Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USASulagna Saitta - 2 Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USABassem A Bejjani - 1 Signature Genomic Laboratories, LLC, 2820 N. Astor St., Spokane, WA 99207, USALisa G Shaffer - 1 Signature Genomic Laboratories, LLC, 2820 N. Astor St., Spokane, WA 99207, USA
- Publication Details
- Human molecular genetics, Vol.18(8), pp.1377-1383
- Academic Unit
- Center for Reproductive Biology; Medical Education and Clinical Science, Department of
- Publisher
- Oxford University Press
- Identifiers
- 99900547578101842
- Language
- English
- Resource Type
- Journal article