Phenotype and 244k array-CGH characterization of chromosome 13q deletions: an update of the phenotypic map of 13q21.1-qter

Maria Kirchhoff; Anne-Marie Bisgaard; Radka Stoeva; Boyan Dimitrov; Gabriele Gillessen-Kaesbach; Jean-Pierre Fryns; Hanne Rose; Liliana Grozdanova; Ivan Ivanov; Kathelijn Keymolen; Christina Fagerberg; Lisbeth Tranebjaerg; Flemming Skovby; Margarita Stefanova

doi:10.1002/ajmg.a.32814

Phenotype and 244k array-CGH characterization of chromosome 13q deletions: an update of the phenotypic map of 13q21.1-qter

Maria Kirchhoff, Anne-Marie Bisgaard, Radka Stoeva, Boyan Dimitrov, Gabriele Gillessen-Kaesbach, Jean-Pierre Fryns, Hanne Rose, Liliana Grozdanova, Ivan Ivanov, Kathelijn Keymolen, Christina Fagerberg, Lisbeth Tranebjaerg, Flemming Skovby, Margarita Stefanova

Institut for Cellulær og Molekylær Medicin

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

107 Citationer (Scopus)

Abstract

Udgivelsesdato: 2009-May

Originalsprog	Engelsk
Tidsskrift	American Journal of Medical Genetics. Part A
Vol/bind	149A
Udgave nummer	5
Sider (fra-til)	894-905
Antal sider	11
ISSN	1552-4825
DOI	https://doi.org/10.1002/ajmg.a.32814
Status	Udgivet - 2009

Bibliografisk note

Keywords: Adolescent; Adult; Child; Child, Preschool; Chromosome Deletion; Chromosome Mapping; Chromosomes, Human, Pair 13; Congenital Abnormalities; Female; Humans; Infant; Male; Oligonucleotide Array Sequence Analysis; Phenotype; Young Adult

Adgang til dokumentet

10.1002/ajmg.a.32814

Citationsformater

Kirchhoff, M., Bisgaard, A.-M., Stoeva, R., Dimitrov, B., Gillessen-Kaesbach, G., Fryns, J.-P., Rose, H., Grozdanova, L., Ivanov, I., Keymolen, K., Fagerberg, C., Tranebjaerg, L., Skovby, F., & Stefanova, M. (2009). Phenotype and 244k array-CGH characterization of chromosome 13q deletions: an update of the phenotypic map of 13q21.1-qter. American Journal of Medical Genetics. Part A, 149A(5), 894-905. https://doi.org/10.1002/ajmg.a.32814

Kirchhoff, M, Bisgaard, A-M, Stoeva, R, Dimitrov, B, Gillessen-Kaesbach, G, Fryns, J-P, Rose, H, Grozdanova, L, Ivanov, I, Keymolen, K, Fagerberg, C, Tranebjaerg, L, Skovby, F & Stefanova, M 2009, 'Phenotype and 244k array-CGH characterization of chromosome 13q deletions: an update of the phenotypic map of 13q21.1-qter', American Journal of Medical Genetics. Part A, bind 149A, nr. 5, s. 894-905. https://doi.org/10.1002/ajmg.a.32814

@article{2286443067f411df928f000ea68e967b,

title = "Phenotype and 244k array-CGH characterization of chromosome 13q deletions: an update of the phenotypic map of 13q21.1-qter",

abstract = "Partial deletions of the long arm of chromosome 13 lead to variable phenotypes dependant on the size and position of the deleted region. In order to update the phenotypic map of chromosome 13q21.1-qter deletions, we applied 244k Agilent oligonucleotide-based array-CGH to determine the exact breakpoints in 14 patients with partial deletions of this region. Subsequently, we linked the genotype to the patient's phenotype. Using this approach, we were able to refine the smallest deletion region linked to short stature (13q31.3: 89.5-91.6 Mb), microcephaly (13q33.3-q34), cortical development malformations (13q33.1-qter), Dandy-Walker malformation (DWM) (13q32.2-q33.1), corpus callosum agenesis (CCA) (13q32.3-q33.1), meningocele/encephalocele (13q31.3-qter), DWM, CCA, and neural tube defects (NTDs) taken together (13q32.3-q33.1), ano-/microphthalmia (13q31.3-13qter), cleft lip/palate (13q31.3-13q33.1), lung hypoplasia (13q31.3-13q33.1), and thumb a-/hypoplasia (13q31.3-q33.1 and 13q33.3-q34). Based on observations of this study and previous reports we suggest a new entity, {"}distal limb anomalies association,{"} linked to 13q31.3q33.1 segment. Most of the individuals with deletion of any part of 13q21qter showed surprisingly similar facial dysmorphic features, and thus, a {"}13q deletion facial appearance{"} was suggested. Prominent nasal columella was mapped between 13q31.3 and 13q33.3, and micrognathia between 13q21.33 and 13q31.1. The degree of mental delay did not display a particular phenotype-genotype correlation on chromosome 13. In contrast to previous reports of carriers of 13q32 band deletions as the most seriously affected patients, we present two such individuals with long-term survival, 28 and 2.5 years.",

author = "Maria Kirchhoff and Anne-Marie Bisgaard and Radka Stoeva and Boyan Dimitrov and Gabriele Gillessen-Kaesbach and Jean-Pierre Fryns and Hanne Rose and Liliana Grozdanova and Ivan Ivanov and Kathelijn Keymolen and Christina Fagerberg and Lisbeth Tranebjaerg and Flemming Skovby and Margarita Stefanova",

note = "Keywords: Adolescent; Adult; Child; Child, Preschool; Chromosome Deletion; Chromosome Mapping; Chromosomes, Human, Pair 13; Congenital Abnormalities; Female; Humans; Infant; Male; Oligonucleotide Array Sequence Analysis; Phenotype; Young Adult",

year = "2009",

doi = "10.1002/ajmg.a.32814",

language = "English",

volume = "149A",

pages = "894--905",

journal = "American Journal of Medical Genetics. Part A",

issn = "1552-4825",

publisher = "JohnWiley & Sons, Inc.",

number = "5",

}

TY - JOUR

T1 - Phenotype and 244k array-CGH characterization of chromosome 13q deletions: an update of the phenotypic map of 13q21.1-qter

AU - Kirchhoff, Maria

AU - Bisgaard, Anne-Marie

AU - Stoeva, Radka

AU - Dimitrov, Boyan

AU - Gillessen-Kaesbach, Gabriele

AU - Fryns, Jean-Pierre

AU - Rose, Hanne

AU - Grozdanova, Liliana

AU - Ivanov, Ivan

AU - Keymolen, Kathelijn

AU - Fagerberg, Christina

AU - Tranebjaerg, Lisbeth

AU - Skovby, Flemming

AU - Stefanova, Margarita

N1 - Keywords: Adolescent; Adult; Child; Child, Preschool; Chromosome Deletion; Chromosome Mapping; Chromosomes, Human, Pair 13; Congenital Abnormalities; Female; Humans; Infant; Male; Oligonucleotide Array Sequence Analysis; Phenotype; Young Adult

PY - 2009

Y1 - 2009

N2 - Partial deletions of the long arm of chromosome 13 lead to variable phenotypes dependant on the size and position of the deleted region. In order to update the phenotypic map of chromosome 13q21.1-qter deletions, we applied 244k Agilent oligonucleotide-based array-CGH to determine the exact breakpoints in 14 patients with partial deletions of this region. Subsequently, we linked the genotype to the patient's phenotype. Using this approach, we were able to refine the smallest deletion region linked to short stature (13q31.3: 89.5-91.6 Mb), microcephaly (13q33.3-q34), cortical development malformations (13q33.1-qter), Dandy-Walker malformation (DWM) (13q32.2-q33.1), corpus callosum agenesis (CCA) (13q32.3-q33.1), meningocele/encephalocele (13q31.3-qter), DWM, CCA, and neural tube defects (NTDs) taken together (13q32.3-q33.1), ano-/microphthalmia (13q31.3-13qter), cleft lip/palate (13q31.3-13q33.1), lung hypoplasia (13q31.3-13q33.1), and thumb a-/hypoplasia (13q31.3-q33.1 and 13q33.3-q34). Based on observations of this study and previous reports we suggest a new entity, "distal limb anomalies association," linked to 13q31.3q33.1 segment. Most of the individuals with deletion of any part of 13q21qter showed surprisingly similar facial dysmorphic features, and thus, a "13q deletion facial appearance" was suggested. Prominent nasal columella was mapped between 13q31.3 and 13q33.3, and micrognathia between 13q21.33 and 13q31.1. The degree of mental delay did not display a particular phenotype-genotype correlation on chromosome 13. In contrast to previous reports of carriers of 13q32 band deletions as the most seriously affected patients, we present two such individuals with long-term survival, 28 and 2.5 years.

AB - Partial deletions of the long arm of chromosome 13 lead to variable phenotypes dependant on the size and position of the deleted region. In order to update the phenotypic map of chromosome 13q21.1-qter deletions, we applied 244k Agilent oligonucleotide-based array-CGH to determine the exact breakpoints in 14 patients with partial deletions of this region. Subsequently, we linked the genotype to the patient's phenotype. Using this approach, we were able to refine the smallest deletion region linked to short stature (13q31.3: 89.5-91.6 Mb), microcephaly (13q33.3-q34), cortical development malformations (13q33.1-qter), Dandy-Walker malformation (DWM) (13q32.2-q33.1), corpus callosum agenesis (CCA) (13q32.3-q33.1), meningocele/encephalocele (13q31.3-qter), DWM, CCA, and neural tube defects (NTDs) taken together (13q32.3-q33.1), ano-/microphthalmia (13q31.3-13qter), cleft lip/palate (13q31.3-13q33.1), lung hypoplasia (13q31.3-13q33.1), and thumb a-/hypoplasia (13q31.3-q33.1 and 13q33.3-q34). Based on observations of this study and previous reports we suggest a new entity, "distal limb anomalies association," linked to 13q31.3q33.1 segment. Most of the individuals with deletion of any part of 13q21qter showed surprisingly similar facial dysmorphic features, and thus, a "13q deletion facial appearance" was suggested. Prominent nasal columella was mapped between 13q31.3 and 13q33.3, and micrognathia between 13q21.33 and 13q31.1. The degree of mental delay did not display a particular phenotype-genotype correlation on chromosome 13. In contrast to previous reports of carriers of 13q32 band deletions as the most seriously affected patients, we present two such individuals with long-term survival, 28 and 2.5 years.

U2 - 10.1002/ajmg.a.32814

DO - 10.1002/ajmg.a.32814

M3 - Journal article

C2 - 19363806

SN - 1552-4825

VL - 149A

SP - 894

EP - 905

JO - American Journal of Medical Genetics. Part A

JF - American Journal of Medical Genetics. Part A

IS - 5

ER -