Literature DB >> 19172430

Neurocognitive functioning of a child with partial trisomy 6 and monosomy 21.

Jennifer M Katzenstein1, John S Oghalai, Ross Tonini, Dian Baker, Jody Haymond, Susan E Caudle.   

Abstract

This case study describes the neurocognitive presentation of a child with identified genetic abnormalities of trisomy 6 and monosomy 21 who was evaluated as part of a standard medical protocol for cochlear implantation following diagnosis of profound sensorineural hearing loss. This child received neurocognitive testing prior to cochlear implantation and approximately 12 months post-activation of his cochlear implant. While he has not fully developed oral language, his presentation suggested improvement in overall skills since the activation of the cochlear implant; however, less than would be expected for a typically developing child.

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Year:  2009        PMID: 19172430      PMCID: PMC3597114          DOI: 10.1080/13554790802631910

Source DB:  PubMed          Journal:  Neurocase        ISSN: 1355-4794            Impact factor:   0.881


  8 in total

1.  Trisomy 6 in basal cell carcinomas correlates with metastatic potential: a dual color fluorescence in situ hybridization study on paraffin sections.

Authors:  R Nangia; S N Sait; A W Block; P J Zhang
Journal:  Cancer       Date:  2001-05-15       Impact factor: 6.860

2.  Trisomy 6: a recurring cytogenetic abnormality associated with marrow hypoplasia.

Authors:  J A Moormeier; C M Rubin; M M Le Beau; J W Vardiman; R A Larson; J N Winter
Journal:  Blood       Date:  1991-03-15       Impact factor: 22.113

3.  A female infant with monosomy 21.

Authors:  P Dziuba; D Dziekanowska; H Hübner
Journal:  Hum Genet       Date:  1976-03-12       Impact factor: 4.132

4.  Full monosomy 21: a clinically recognizable syndrome?

Authors:  J P Fryns; F D'Hondt; P Goddeeris; H van den Berghe
Journal:  Hum Genet       Date:  1977-06-30       Impact factor: 4.132

5.  Monosomy 21: a new case confirmed by in situ hybridization.

Authors:  M C Pellissier; N Philip; M A Voelckel-Baeteman; M G Mattei; J F Mattei
Journal:  Hum Genet       Date:  1987-01       Impact factor: 4.132

Review 6.  Trisomy 6 is the hallmark of a dysplastic clone in bone marrow aplasia.

Authors:  R La Starza; C Matteucci; B Crescenzi; A Criel; D Selleslag; M F Martelli; H Van den Berghe; C Mecucci
Journal:  Cancer Genet Cytogenet       Date:  1998-08

7.  Intelligence, parental depression, and behavior adaptability in deaf children being considered for cochlear implantation.

Authors:  Poorna Kushalnagar; Kevin Krull; Julia Hannay; Paras Mehta; Susan Caudle; John Oghalai
Journal:  J Deaf Stud Deaf Educ       Date:  2007-04-21

8.  Cognition in children with sensorineural hearing loss: etiologic considerations.

Authors:  Suzanne K Pierson; Susan E Caudle; Kevin R Krull; Jody Haymond; Ross Tonini; John S Oghalai
Journal:  Laryngoscope       Date:  2007-09       Impact factor: 3.325

  8 in total
  6 in total

1.  Neuroimaging with near-infrared spectroscopy demonstrates speech-evoked activity in the auditory cortex of deaf children following cochlear implantation.

Authors:  Alexander B G Sevy; Heather Bortfeld; Theodore J Huppert; Michael S Beauchamp; Ross E Tonini; John S Oghalai
Journal:  Hear Res       Date:  2010-10-01       Impact factor: 3.208

2.  Deficiencies in the region syntenic to human 21q22.3 cause cognitive deficits in mice.

Authors:  Tao Yu; Steven J Clapcote; Zhongyou Li; Chunhong Liu; Annie Pao; Allison R Bechard; Sandra Carattini-Rivera; Sei-Ichi Matsui; John C Roder; Antonio Baldini; William C Mobley; Allan Bradley; Y Eugene Yu
Journal:  Mamm Genome       Date:  2010-05-29       Impact factor: 2.957

Review 3.  Functional near-infrared spectroscopy for neuroimaging in cochlear implant recipients.

Authors:  Joe Saliba; Heather Bortfeld; Daniel J Levitin; John S Oghalai
Journal:  Hear Res       Date:  2016-02-13       Impact factor: 3.208

4.  Proximal 21q deletion as a result of a de novo unbalanced t(12;21) translocation in a patient with dysmorphic features, hepatomegaly, thick myocardium and delayed psychomotor development.

Authors:  Cathrine Jespersgaard; Ida N Damgaard; Nanna Cornelius; Iben Bache; Niels Knabe; Maria J Miranda; Zeynep Tümer
Journal:  Mol Cytogenet       Date:  2016-02-04       Impact factor: 2.009

5.  Monosomy chromosome 21 compensated by 21q22.11q22.3 duplication in a case with small size and minor anomalies.

Authors:  Meng Su; Paul J Benke; Guney Bademci; Filiz Basak Cengiz; Xiaomei Ouyang; Jinghong Peng; Carmen E Casas; Mustafa Tekin; Yao-Shan Fan
Journal:  Mol Cytogenet       Date:  2018-08-01       Impact factor: 2.009

6.  Modeling partial monosomy for human chromosome 21q11.2-q21.1 reveals haploinsufficient genes influencing behavior and fat deposition.

Authors:  Anna M Migdalska; Louise van der Weyden; Ozama Ismail; Jacqueline K White; Gabriela Sánchez-Andrade; Darren W Logan; Mark J Arends; David J Adams
Journal:  PLoS One       Date:  2012-01-20       Impact factor: 3.240

  6 in total

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