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Clinical and Molecular Characterization of a Patient with 15q21.2q22.2 Deletion Syndrome

We report on a 16-year-old girl with a complex phenotype, including intellectual disability, facial dysmorphisms, and obesity. During her infancy, she presented with weak sucking, global developmental delay, and later with excessive eating with central obesity. The girl was clinically diagnosed with... Full description

Journal Title: Cytogenetic and genome research 2015-02, Vol.144 (3), p.183-189
Main Author: Velázquez-Wong, Ana C
Other Authors: Ruiz Esparza-Garrido, Ruth , Velázquez-Flores, Miguel Á , Huicochea-Montiel, Juan C , Cárdenas-Conejo, Alan , Miguez-Muñoz, Cristian P , Araujo-Solís, María A , Salamanca-Gómez, Fabio , Arenas-Aranda, Diego J
Format: Electronic Article Electronic Article
Language: English
Subjects:
Quelle: Alma/SFX Local Collection
Publisher: Basel, Switzerland: S. Karger AG
ID: ISSN: 1424-8581
Link: https://www.ncbi.nlm.nih.gov/pubmed/25661042
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title: Clinical and Molecular Characterization of a Patient with 15q21.2q22.2 Deletion Syndrome
format: Article
creator:
  • Velázquez-Wong, Ana C
  • Ruiz Esparza-Garrido, Ruth
  • Velázquez-Flores, Miguel Á
  • Huicochea-Montiel, Juan C
  • Cárdenas-Conejo, Alan
  • Miguez-Muñoz, Cristian P
  • Araujo-Solís, María A
  • Salamanca-Gómez, Fabio
  • Arenas-Aranda, Diego J
subjects:
  • Abnormalities, Multiple - genetics
  • Abnormalities, Multiple - pathology
  • Adolescent
  • Case Report
  • Chromosome Deletion
  • Chromosomes, Human, Pair 15 - genetics
  • Comparative Genomic Hybridization
  • Developmental Disabilities - diagnosis
  • Developmental Disabilities - genetics
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Phenotype
ispartof: Cytogenetic and genome research, 2015-02, Vol.144 (3), p.183-189
description: We report on a 16-year-old girl with a complex phenotype, including intellectual disability, facial dysmorphisms, and obesity. During her infancy, she presented with weak sucking, global developmental delay, and later with excessive eating with central obesity. The girl was clinically diagnosed with probable Prader-Willi syndrome. Chromosomal analysis showed a de novo deletion 46,XX,del(15)(q21q22). However, the use of the Affymetrix CytoScan HD Array defined the exact breakpoints of the deleted 15q21q22 region. The imbalance, about 10.5 Mb in size, is to date the second largest deletion ever described in this chromosomal region. In addition, our patient carries a microdeletion in the 1q44 region and a gain in 9p24. The array result was arr[hg19] 9p24.1(6,619,823-6,749,335)×3, 1q44(248,688,586-248,795,277)×1, 15q21.2 q22.2(50,848,301-61,298,006)×1. Although our patient presents additional chromosomal alterations, we provide a correlation between the clinical findings and the phenotype of the 15q21 deletion syndrome.
language: eng
source: Alma/SFX Local Collection
identifier: ISSN: 1424-8581
fulltext: fulltext
issn:
  • 1424-8581
  • 1424-859X
url: Link


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creatorVelázquez-Wong, Ana C ; Ruiz Esparza-Garrido, Ruth ; Velázquez-Flores, Miguel Á ; Huicochea-Montiel, Juan C ; Cárdenas-Conejo, Alan ; Miguez-Muñoz, Cristian P ; Araujo-Solís, María A ; Salamanca-Gómez, Fabio ; Arenas-Aranda, Diego J
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descriptionWe report on a 16-year-old girl with a complex phenotype, including intellectual disability, facial dysmorphisms, and obesity. During her infancy, she presented with weak sucking, global developmental delay, and later with excessive eating with central obesity. The girl was clinically diagnosed with probable Prader-Willi syndrome. Chromosomal analysis showed a de novo deletion 46,XX,del(15)(q21q22). However, the use of the Affymetrix CytoScan HD Array defined the exact breakpoints of the deleted 15q21q22 region. The imbalance, about 10.5 Mb in size, is to date the second largest deletion ever described in this chromosomal region. In addition, our patient carries a microdeletion in the 1q44 region and a gain in 9p24. The array result was arr[hg19] 9p24.1(6,619,823-6,749,335)×3, 1q44(248,688,586-248,795,277)×1, 15q21.2 q22.2(50,848,301-61,298,006)×1. Although our patient presents additional chromosomal alterations, we provide a correlation between the clinical findings and the phenotype of the 15q21 deletion syndrome.
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subjectAbnormalities, Multiple - genetics ; Abnormalities, Multiple - pathology ; Adolescent ; Case Report ; Chromosome Deletion ; Chromosomes, Human, Pair 15 - genetics ; Comparative Genomic Hybridization ; Developmental Disabilities - diagnosis ; Developmental Disabilities - genetics ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Phenotype
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descriptionWe report on a 16-year-old girl with a complex phenotype, including intellectual disability, facial dysmorphisms, and obesity. During her infancy, she presented with weak sucking, global developmental delay, and later with excessive eating with central obesity. The girl was clinically diagnosed with probable Prader-Willi syndrome. Chromosomal analysis showed a de novo deletion 46,XX,del(15)(q21q22). However, the use of the Affymetrix CytoScan HD Array defined the exact breakpoints of the deleted 15q21q22 region. The imbalance, about 10.5 Mb in size, is to date the second largest deletion ever described in this chromosomal region. In addition, our patient carries a microdeletion in the 1q44 region and a gain in 9p24. The array result was arr[hg19] 9p24.1(6,619,823-6,749,335)×3, 1q44(248,688,586-248,795,277)×1, 15q21.2 q22.2(50,848,301-61,298,006)×1. Although our patient presents additional chromosomal alterations, we provide a correlation between the clinical findings and the phenotype of the 15q21 deletion syndrome.
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abstractWe report on a 16-year-old girl with a complex phenotype, including intellectual disability, facial dysmorphisms, and obesity. During her infancy, she presented with weak sucking, global developmental delay, and later with excessive eating with central obesity. The girl was clinically diagnosed with probable Prader-Willi syndrome. Chromosomal analysis showed a de novo deletion 46,XX,del(15)(q21q22). However, the use of the Affymetrix CytoScan HD Array defined the exact breakpoints of the deleted 15q21q22 region. The imbalance, about 10.5 Mb in size, is to date the second largest deletion ever described in this chromosomal region. In addition, our patient carries a microdeletion in the 1q44 region and a gain in 9p24. The array result was arr[hg19] 9p24.1(6,619,823-6,749,335)×3, 1q44(248,688,586-248,795,277)×1, 15q21.2 q22.2(50,848,301-61,298,006)×1. Although our patient presents additional chromosomal alterations, we provide a correlation between the clinical findings and the phenotype of the 15q21 deletion syndrome.
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