A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33.
<h4>Background</h4>Subtelomeric deletions of the long arm of chromosome 20 are rare, with only 11 described in the literature. Clinical features of individuals with these microdeletions include severe limb malformations, skeletal abnormalities, growth retardation, developmental and speec...
Guardado en:
| Autores principales: | , , , , , , , , , , , , , , |
|---|---|
| Formato: | article |
| Lenguaje: | EN |
| Publicado: |
Public Library of Science (PLoS)
2010
|
| Materias: | |
| Acceso en línea: | https://doaj.org/article/903c9eedb11a4082bba6de997e486d40 |
| Etiquetas: |
Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!
|
| id |
oai:doaj.org-article:903c9eedb11a4082bba6de997e486d40 |
|---|---|
| record_format |
dspace |
| spelling |
oai:doaj.org-article:903c9eedb11a4082bba6de997e486d402021-11-18T06:35:38ZA genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33.1932-620310.1371/journal.pone.0012462https://doaj.org/article/903c9eedb11a4082bba6de997e486d402010-08-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/20805988/?tool=EBIhttps://doaj.org/toc/1932-6203<h4>Background</h4>Subtelomeric deletions of the long arm of chromosome 20 are rare, with only 11 described in the literature. Clinical features of individuals with these microdeletions include severe limb malformations, skeletal abnormalities, growth retardation, developmental and speech delay, mental retardation, seizures and mild, non-specific dysmorphic features.<h4>Methodology/principal findings</h4>We characterized microdeletions at 20q13.33 in six individuals referred for genetic evaluation of developmental delay, mental retardation, and/or congenital anomalies. A comparison to previously reported cases of 20q13.33 microdeletion shows phenotypic overlap, with clinical features that include mental retardation, developmental delay, speech and language deficits, seizures, and behavior problems such as autistic spectrum disorder. There does not appear to be a clinically recognizable constellation of dysmorphic features among individuals with subtelomeric 20q microdeletions.<h4>Conclusions/significance</h4>Based on genotype-phenotype correlation among individuals in this and previous studies, we discuss several possible candidate genes for specific clinical features, including ARFGAP1, CHRNA4 and KCNQ2 and neurodevelopmental deficits. Deletion of this region may play an important role in cognitive development.Ryan N TraylorDamien L BrunoTrent BurgessRobert WildinAnne SpencerDevika GanesamoorthyDavid J AmorMatthew HunterMatthew HunterMichael CaplanJill A RosenfeldAaron TheisenBeth S TorchiaLisa G ShafferBlake C BallifHoward R SlaterPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 5, Iss 8, p e12462 (2010) |
| institution |
DOAJ |
| collection |
DOAJ |
| language |
EN |
| topic |
Medicine R Science Q |
| spellingShingle |
Medicine R Science Q Ryan N Traylor Damien L Bruno Trent Burgess Robert Wildin Anne Spencer Devika Ganesamoorthy David J Amor Matthew Hunter Matthew Hunter Michael Caplan Jill A Rosenfeld Aaron Theisen Beth S Torchia Lisa G Shaffer Blake C Ballif Howard R Slater A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33. |
| description |
<h4>Background</h4>Subtelomeric deletions of the long arm of chromosome 20 are rare, with only 11 described in the literature. Clinical features of individuals with these microdeletions include severe limb malformations, skeletal abnormalities, growth retardation, developmental and speech delay, mental retardation, seizures and mild, non-specific dysmorphic features.<h4>Methodology/principal findings</h4>We characterized microdeletions at 20q13.33 in six individuals referred for genetic evaluation of developmental delay, mental retardation, and/or congenital anomalies. A comparison to previously reported cases of 20q13.33 microdeletion shows phenotypic overlap, with clinical features that include mental retardation, developmental delay, speech and language deficits, seizures, and behavior problems such as autistic spectrum disorder. There does not appear to be a clinically recognizable constellation of dysmorphic features among individuals with subtelomeric 20q microdeletions.<h4>Conclusions/significance</h4>Based on genotype-phenotype correlation among individuals in this and previous studies, we discuss several possible candidate genes for specific clinical features, including ARFGAP1, CHRNA4 and KCNQ2 and neurodevelopmental deficits. Deletion of this region may play an important role in cognitive development. |
| format |
article |
| author |
Ryan N Traylor Damien L Bruno Trent Burgess Robert Wildin Anne Spencer Devika Ganesamoorthy David J Amor Matthew Hunter Matthew Hunter Michael Caplan Jill A Rosenfeld Aaron Theisen Beth S Torchia Lisa G Shaffer Blake C Ballif Howard R Slater |
| author_facet |
Ryan N Traylor Damien L Bruno Trent Burgess Robert Wildin Anne Spencer Devika Ganesamoorthy David J Amor Matthew Hunter Matthew Hunter Michael Caplan Jill A Rosenfeld Aaron Theisen Beth S Torchia Lisa G Shaffer Blake C Ballif Howard R Slater |
| author_sort |
Ryan N Traylor |
| title |
A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33. |
| title_short |
A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33. |
| title_full |
A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33. |
| title_fullStr |
A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33. |
| title_full_unstemmed |
A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33. |
| title_sort |
genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33. |
| publisher |
Public Library of Science (PLoS) |
| publishDate |
2010 |
| url |
https://doaj.org/article/903c9eedb11a4082bba6de997e486d40 |
| work_keys_str_mv |
AT ryanntraylor agenotypefirstapproachforthemolecularandclinicalcharacterizationofuncommondenovomicrodeletionof20q1333 AT damienlbruno agenotypefirstapproachforthemolecularandclinicalcharacterizationofuncommondenovomicrodeletionof20q1333 AT trentburgess agenotypefirstapproachforthemolecularandclinicalcharacterizationofuncommondenovomicrodeletionof20q1333 AT robertwildin agenotypefirstapproachforthemolecularandclinicalcharacterizationofuncommondenovomicrodeletionof20q1333 AT annespencer agenotypefirstapproachforthemolecularandclinicalcharacterizationofuncommondenovomicrodeletionof20q1333 AT devikaganesamoorthy agenotypefirstapproachforthemolecularandclinicalcharacterizationofuncommondenovomicrodeletionof20q1333 AT davidjamor agenotypefirstapproachforthemolecularandclinicalcharacterizationofuncommondenovomicrodeletionof20q1333 AT matthewhunter agenotypefirstapproachforthemolecularandclinicalcharacterizationofuncommondenovomicrodeletionof20q1333 AT matthewhunter agenotypefirstapproachforthemolecularandclinicalcharacterizationofuncommondenovomicrodeletionof20q1333 AT michaelcaplan agenotypefirstapproachforthemolecularandclinicalcharacterizationofuncommondenovomicrodeletionof20q1333 AT jillarosenfeld agenotypefirstapproachforthemolecularandclinicalcharacterizationofuncommondenovomicrodeletionof20q1333 AT aarontheisen agenotypefirstapproachforthemolecularandclinicalcharacterizationofuncommondenovomicrodeletionof20q1333 AT bethstorchia agenotypefirstapproachforthemolecularandclinicalcharacterizationofuncommondenovomicrodeletionof20q1333 AT lisagshaffer agenotypefirstapproachforthemolecularandclinicalcharacterizationofuncommondenovomicrodeletionof20q1333 AT blakecballif agenotypefirstapproachforthemolecularandclinicalcharacterizationofuncommondenovomicrodeletionof20q1333 AT howardrslater agenotypefirstapproachforthemolecularandclinicalcharacterizationofuncommondenovomicrodeletionof20q1333 AT ryanntraylor genotypefirstapproachforthemolecularandclinicalcharacterizationofuncommondenovomicrodeletionof20q1333 AT damienlbruno genotypefirstapproachforthemolecularandclinicalcharacterizationofuncommondenovomicrodeletionof20q1333 AT trentburgess genotypefirstapproachforthemolecularandclinicalcharacterizationofuncommondenovomicrodeletionof20q1333 AT robertwildin genotypefirstapproachforthemolecularandclinicalcharacterizationofuncommondenovomicrodeletionof20q1333 AT annespencer genotypefirstapproachforthemolecularandclinicalcharacterizationofuncommondenovomicrodeletionof20q1333 AT devikaganesamoorthy genotypefirstapproachforthemolecularandclinicalcharacterizationofuncommondenovomicrodeletionof20q1333 AT davidjamor genotypefirstapproachforthemolecularandclinicalcharacterizationofuncommondenovomicrodeletionof20q1333 AT matthewhunter genotypefirstapproachforthemolecularandclinicalcharacterizationofuncommondenovomicrodeletionof20q1333 AT matthewhunter genotypefirstapproachforthemolecularandclinicalcharacterizationofuncommondenovomicrodeletionof20q1333 AT michaelcaplan genotypefirstapproachforthemolecularandclinicalcharacterizationofuncommondenovomicrodeletionof20q1333 AT jillarosenfeld genotypefirstapproachforthemolecularandclinicalcharacterizationofuncommondenovomicrodeletionof20q1333 AT aarontheisen genotypefirstapproachforthemolecularandclinicalcharacterizationofuncommondenovomicrodeletionof20q1333 AT bethstorchia genotypefirstapproachforthemolecularandclinicalcharacterizationofuncommondenovomicrodeletionof20q1333 AT lisagshaffer genotypefirstapproachforthemolecularandclinicalcharacterizationofuncommondenovomicrodeletionof20q1333 AT blakecballif genotypefirstapproachforthemolecularandclinicalcharacterizationofuncommondenovomicrodeletionof20q1333 AT howardrslater genotypefirstapproachforthemolecularandclinicalcharacterizationofuncommondenovomicrodeletionof20q1333 |
| _version_ |
1718424429298450432 |