18q deletions: clinical, molecular, and brain MRI findings of 14 individuals

Tarja Linnankivi, Pentti J Tienari, Mirja Somer, Marketta Kähkönen, Tuula Lönnqvist, Leena Valanne, Helena Pihko

Research output: Contribution to journalArticleScientificpeer-review

Abstract

We studied 14 individuals with partial deletions of the long arm of chromosome 18, including terminal and interstitial de novo and inherited deletions. Study participants were examined clinically and by brain MRI. The size of the deletion was determined by segregation analysis using microsatellite markers. We observed that the phenotype was highly variable, even in two families with three 1st degree relatives. Among the 14 individuals, general intelligence varied from normal to severe mental retardation. The more common features of 18q-deletions (e.g., foot deformities, aural atresia, palatal abnormalities, dysmyelination, and nystagmus) were present in individuals lacking only the distal portion 18q22.3-qtel. Interstitial deletions exerted very heterogeneous effects on phenotype. In individuals with distal 18q22.3-q23 deletions, brain MRI was very distinctive with poor differentiation of gray and white matter on T2-weighted images. (c) 2006 Wiley-Liss, Inc.
Original languageEnglish
JournalAmerican Journal of Medical Genetics. Part A
Volume140A
Issue number4
Pages (from-to)331-339
Number of pages9
ISSN1552-4825
DOIs
Publication statusPublished - 2006
MoE publication typeA1 Journal article-refereed

Cite this

@article{6315f38ee6a740c183fcca1055d0cd3c,
title = "18q deletions: clinical, molecular, and brain MRI findings of 14 individuals",
abstract = "We studied 14 individuals with partial deletions of the long arm of chromosome 18, including terminal and interstitial de novo and inherited deletions. Study participants were examined clinically and by brain MRI. The size of the deletion was determined by segregation analysis using microsatellite markers. We observed that the phenotype was highly variable, even in two families with three 1st degree relatives. Among the 14 individuals, general intelligence varied from normal to severe mental retardation. The more common features of 18q-deletions (e.g., foot deformities, aural atresia, palatal abnormalities, dysmyelination, and nystagmus) were present in individuals lacking only the distal portion 18q22.3-qtel. Interstitial deletions exerted very heterogeneous effects on phenotype. In individuals with distal 18q22.3-q23 deletions, brain MRI was very distinctive with poor differentiation of gray and white matter on T2-weighted images. (c) 2006 Wiley-Liss, Inc.",
author = "Tarja Linnankivi and Tienari, {Pentti J} and Mirja Somer and Marketta K{\"a}hk{\"o}nen and Tuula L{\"o}nnqvist and Leena Valanne and Helena Pihko",
year = "2006",
doi = "10.1002/ajmg.a.31072",
language = "English",
volume = "140A",
pages = "331--339",
journal = "American Journal of Medical Genetics. Part A",
issn = "1552-4825",
publisher = "Wiley",
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18q deletions : clinical, molecular, and brain MRI findings of 14 individuals. / Linnankivi, Tarja; Tienari, Pentti J; Somer, Mirja; Kähkönen, Marketta; Lönnqvist, Tuula; Valanne, Leena; Pihko, Helena.

In: American Journal of Medical Genetics. Part A, Vol. 140A, No. 4, 2006, p. 331-339.

Research output: Contribution to journalArticleScientificpeer-review

TY - JOUR

T1 - 18q deletions

T2 - clinical, molecular, and brain MRI findings of 14 individuals

AU - Linnankivi, Tarja

AU - Tienari, Pentti J

AU - Somer, Mirja

AU - Kähkönen, Marketta

AU - Lönnqvist, Tuula

AU - Valanne, Leena

AU - Pihko, Helena

PY - 2006

Y1 - 2006

N2 - We studied 14 individuals with partial deletions of the long arm of chromosome 18, including terminal and interstitial de novo and inherited deletions. Study participants were examined clinically and by brain MRI. The size of the deletion was determined by segregation analysis using microsatellite markers. We observed that the phenotype was highly variable, even in two families with three 1st degree relatives. Among the 14 individuals, general intelligence varied from normal to severe mental retardation. The more common features of 18q-deletions (e.g., foot deformities, aural atresia, palatal abnormalities, dysmyelination, and nystagmus) were present in individuals lacking only the distal portion 18q22.3-qtel. Interstitial deletions exerted very heterogeneous effects on phenotype. In individuals with distal 18q22.3-q23 deletions, brain MRI was very distinctive with poor differentiation of gray and white matter on T2-weighted images. (c) 2006 Wiley-Liss, Inc.

AB - We studied 14 individuals with partial deletions of the long arm of chromosome 18, including terminal and interstitial de novo and inherited deletions. Study participants were examined clinically and by brain MRI. The size of the deletion was determined by segregation analysis using microsatellite markers. We observed that the phenotype was highly variable, even in two families with three 1st degree relatives. Among the 14 individuals, general intelligence varied from normal to severe mental retardation. The more common features of 18q-deletions (e.g., foot deformities, aural atresia, palatal abnormalities, dysmyelination, and nystagmus) were present in individuals lacking only the distal portion 18q22.3-qtel. Interstitial deletions exerted very heterogeneous effects on phenotype. In individuals with distal 18q22.3-q23 deletions, brain MRI was very distinctive with poor differentiation of gray and white matter on T2-weighted images. (c) 2006 Wiley-Liss, Inc.

U2 - 10.1002/ajmg.a.31072

DO - 10.1002/ajmg.a.31072

M3 - Article

VL - 140A

SP - 331

EP - 339

JO - American Journal of Medical Genetics. Part A

JF - American Journal of Medical Genetics. Part A

SN - 1552-4825

IS - 4

ER -