NDLI: 17p13.1 microdeletion involving the TP53 gene in a boy presenting with mental retardation but no tumor.

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17p13.1 microdeletion involving the TP53 gene in a boy presenting with mental retardation but no tumor.

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17p13.1 microdeletion involving the TP53 gene in a boy presenting with mental retardation but no tumor.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Schluth-Bolard, Caroline Sanlaville, Damien Labalme, Audrey Till, Marianne Morin, Isabelle Touraine, Renaud Edery, Patrick
Description	Country affiliation: France Author Affiliation: Schluth-Bolard C ( Hospices Civils de Lyon, Service de Cytogénétique Constitutionnelle, CBPE, Lyon, France.)
Abstract	We report on the diagnosis of a 17p13.1 deletion in a 10-year-old boy. The patient presented with mild developmental delay, facial dysmorphism, joint hyperlaxity, pes planus, hypermetropia, hearing loss, and achromic patches following the Blaschko's lines on the right part of the thorax. Chromosome R-banding was normal. Array CGH using a 244 K oligonucleotide array showed a homogeneous de novo 17p13.1 microdeletion of 400 kb involving TP53 and 25 other genes, including genes involved in brain function (EFNB3, FXR2). To our knowledge, six patients presenting with a constitutional 17p13.1 microdeletion involving the TP53 gene have been reported. We discuss the phenotype of this microdeletion and the genetic counseling issues, especially regarding the risk of cancer associated with the deletion of the TP53 gene.
File Format	HTM / HTML
ISSN	15524825
Issue Number	5
Volume Number	152A
e-ISSN	15524833
Journal	American Journal of Medical Genetics Part A
Language	English
Publisher	Wiley-Blackwell
Publisher Date	2010-05-01
Publisher Place	United States
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Discipline Human Discipline Genetics Chromosome Deletion Chromosomes, Human, Pair 17 Genetics Intellectual Disability Neoplasms Tumor Suppressor Protein P53 Child, Preschool Chromosome Mapping Cytogenetic Analysis Female Humans Infant Infant, Newborn Male Phenotype Pregnancy Case Reports Journal Article Research Support, Non-u.s. Gov't
Content Type	Text
Resource Type	Article Case study
Subject	Genetics Genetics (clinical)

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