Interstitial deletion of 14q24.3-q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defects

Sultan Cingöz; Iben Bache; Lise Bjerglund; Hans-Hilger Ropers; Niels Tommerup; Hanne Jensen; Karen Brøndum-Nielsen; Zeynep Tümer

doi:10.1002/ajmg.a.33766

Interstitial deletion of 14q24.3-q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defects

Sultan Cingöz, Iben Bache, Lise Bjerglund, Hans-Hilger Ropers, Niels Tommerup, Hanne Jensen, Karen Brøndum-Nielsen, Zeynep Tümer

6 Citations (Scopus)

Abstract

Distal interstitial deletions of chromosome 14 involving the 14q24-q23.2 region are rare, and only been reported so far in 20 patients. Ten of these patients were analyzed both clinically and genetically. Here we present a de novo interstitial deletion of chromosome 14q24.3-q32.2 in a male patient with developmental delay, language impairment, plagiocephaly, BPES features (blepharophimosis, ptosis, epicanthus), and congenital heart defect. The deletion breakpoints were fine mapped using fluorescence in situ hybridization (FISH) and the size of the deletion is estimated to be approximately 23¿Mb. Based on genotype-phenotype comparisons of the 10 previously published patients and the present case, we suggest that the shortest regions for deletion overlap may include candidate genes for speech impairment, mental retardation, and hypotonia.

Original language	English
Journal	American Journal of Medical Genetics. Part A
Volume	155A
Issue number	1
Pages (from-to)	203-6
Number of pages	4
ISSN	1552-4825
DOIs	https://doi.org/10.1002/ajmg.a.33766
Publication status	Published - 1 Jan 2011

Keywords

Abnormalities, Multiple
Chromosome Deletion
Chromosomes, Human, Pair 14
Developmental Disabilities
Heart Defects, Congenital
Humans
In Situ Hybridization, Fluorescence
Male
Phenotype
Plagiocephaly

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Interstitial deletion of 14q24.3-q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defects. / Cingöz, Sultan; Bache, Iben; Bjerglund, Lise et al.

In: American Journal of Medical Genetics. Part A, Vol. 155A, No. 1, 01.01.2011, p. 203-6.

Research output: Contribution to journal › Journal article › Research › peer-review

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title = "Interstitial deletion of 14q24.3-q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defects",

abstract = "Distal interstitial deletions of chromosome 14 involving the 14q24-q23.2 region are rare, and only been reported so far in 20 patients. Ten of these patients were analyzed both clinically and genetically. Here we present a de novo interstitial deletion of chromosome 14q24.3-q32.2 in a male patient with developmental delay, language impairment, plagiocephaly, BPES features (blepharophimosis, ptosis, epicanthus), and congenital heart defect. The deletion breakpoints were fine mapped using fluorescence in situ hybridization (FISH) and the size of the deletion is estimated to be approximately 23¿Mb. Based on genotype-phenotype comparisons of the 10 previously published patients and the present case, we suggest that the shortest regions for deletion overlap may include candidate genes for speech impairment, mental retardation, and hypotonia.",

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AU - Cingöz, Sultan

AU - Bache, Iben

AU - Bjerglund, Lise

AU - Ropers, Hans-Hilger

AU - Tommerup, Niels

AU - Jensen, Hanne

AU - Brøndum-Nielsen, Karen

AU - Tümer, Zeynep

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AB - Distal interstitial deletions of chromosome 14 involving the 14q24-q23.2 region are rare, and only been reported so far in 20 patients. Ten of these patients were analyzed both clinically and genetically. Here we present a de novo interstitial deletion of chromosome 14q24.3-q32.2 in a male patient with developmental delay, language impairment, plagiocephaly, BPES features (blepharophimosis, ptosis, epicanthus), and congenital heart defect. The deletion breakpoints were fine mapped using fluorescence in situ hybridization (FISH) and the size of the deletion is estimated to be approximately 23¿Mb. Based on genotype-phenotype comparisons of the 10 previously published patients and the present case, we suggest that the shortest regions for deletion overlap may include candidate genes for speech impairment, mental retardation, and hypotonia.

KW - Abnormalities, Multiple

KW - Chromosome Deletion

KW - Chromosomes, Human, Pair 14

KW - Developmental Disabilities

KW - Heart Defects, Congenital

KW - Humans

KW - In Situ Hybridization, Fluorescence

KW - Male

KW - Phenotype

KW - Plagiocephaly

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DO - 10.1002/ajmg.a.33766

M3 - Journal article

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SN - 1552-4825

VL - 155A

SP - 203

EP - 206

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

IS - 1

ER -

Interstitial deletion of 14q24.3-q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defects

Abstract

Keywords

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