Literature DB >> 11769273

Deletion of 8p: a report of a child with normal intelligence.

L Gilmore1, M Cuskelly, A Jobling, S Smith.   

Abstract

The case is presented of a female infant with a distal deletion of 8p (8p23.1-->pter) whose development was monitored over a 5-year period from 12 months of age. Although previous literature has suggested that 8p deletion is associated with mild to moderate intellectual disability, the child reported here has normal intelligence. Despite initial delays in gross motor and language skills, cognitive development (assessed with the Bayley Scales of Infant Development) and intellectual ability (measured on the Stanford-Binet Intelligence Scale) were within average range. It is argued that the small number of previous case reports may have created a misleading impression of intellectual development in individuals with distal deletions of 8p.

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Year:  2001        PMID: 11769273     DOI: 10.1017/s0012162201001530

Source DB:  PubMed          Journal:  Dev Med Child Neurol        ISSN: 0012-1622            Impact factor:   5.449


  7 in total

Review 1.  Telomeres: a diagnosis at the end of the chromosomes.

Authors:  B B A De Vries; R Winter; A Schinzel; C van Ravenswaaij-Arts
Journal:  J Med Genet       Date:  2003-06       Impact factor: 6.318

2.  Genotype-phenotype association studies of chromosome 8p inverted duplication deletion syndrome.

Authors:  Gene S Fisch; Ryan Davis; Janey Youngblom; Jeff Gregg
Journal:  Behav Genet       Date:  2011-01-23       Impact factor: 2.805

3.  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 4.  Directly transmitted unbalanced chromosome abnormalities and euchromatic variants.

Authors:  J C K Barber
Journal:  J Med Genet       Date:  2005-08       Impact factor: 6.318

5.  Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia.

Authors:  Margaret J Wat; Oleg A Shchelochkov; Ashley M Holder; Amy M Breman; Aditi Dagli; Carlos Bacino; Fernando Scaglia; Roberto T Zori; Sau Wai Cheung; Daryl A Scott; Sung-Hae Lee Kang
Journal:  Am J Med Genet A       Date:  2009-08       Impact factor: 2.802

6.  Is interstitial 8p23 microdeletion responsible of 46,XY gonadal dysgenesis? One case report from birth to puberty.

Authors:  Kathy Wagner-Mahler; Jean-Yves Kurzenne; Frederique Gastaud; Marie Hoflack; Patricia Panaia Ferrari; Etienne Berard; Fabienne Giuliano; Houda Karmous-Benailly; Pamela Moceri; Celine Jouannelle; Marine Bourcier; Elise Robart; Yves Morel
Journal:  Mol Genet Genomic Med       Date:  2019-01-28       Impact factor: 2.183

7.  Cytogenomics Investigation of Infants with Congenital Heart Disease: Experience of a Brazilian Center.

Authors:  Marcília Sierro Grassi; Marília Montenegro; Evelin Aline Zanardo; Antonio Carlos Pastorino; Mayra Barros Dorna; Chong Kim; Marcelo Jatene; Nana Miura; Leslie Kulikowski; Magda Carneiro-Sampaio
Journal:  Arq Bras Cardiol       Date:  2022-01       Impact factor: 2.000

  7 in total

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