22q11.2 microduplication in two patients with bladder exstrophy and hearing impairment

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22q11.2 microduplication in two patients with bladder exstrophy and hearing impairment. / Lundin, Johanna; Soderhall, Cilla; Lunden, Lina; Hammarsjo, Anna; White, Irene; Schoumans, Jacqueline; Lackgren, Goran; Clementson Kockum, Christina; Nordenskjold, Agneta.

In: European Journal of Medical Genetics, Vol. 53, No. 2, 2010, p. 61-65.

Research output: Contribution to journalArticle

Harvard

Lundin, J, Soderhall, C, Lunden, L, Hammarsjo, A, White, I, Schoumans, J, Lackgren, G, Clementson Kockum, C & Nordenskjold, A 2010, '22q11.2 microduplication in two patients with bladder exstrophy and hearing impairment', European Journal of Medical Genetics, vol. 53, no. 2, pp. 61-65. https://doi.org/10.1016/j.ejmg.2009.11.004

APA

Lundin, J., Soderhall, C., Lunden, L., Hammarsjo, A., White, I., Schoumans, J., Lackgren, G., Clementson Kockum, C., & Nordenskjold, A. (2010). 22q11.2 microduplication in two patients with bladder exstrophy and hearing impairment. European Journal of Medical Genetics, 53(2), 61-65. https://doi.org/10.1016/j.ejmg.2009.11.004

CBE

Lundin J, Soderhall C, Lunden L, Hammarsjo A, White I, Schoumans J, Lackgren G, Clementson Kockum C, Nordenskjold A. 2010. 22q11.2 microduplication in two patients with bladder exstrophy and hearing impairment. European Journal of Medical Genetics. 53(2):61-65. https://doi.org/10.1016/j.ejmg.2009.11.004

MLA

Vancouver

Author

Lundin, Johanna ; Soderhall, Cilla ; Lunden, Lina ; Hammarsjo, Anna ; White, Irene ; Schoumans, Jacqueline ; Lackgren, Goran ; Clementson Kockum, Christina ; Nordenskjold, Agneta. / 22q11.2 microduplication in two patients with bladder exstrophy and hearing impairment. In: European Journal of Medical Genetics. 2010 ; Vol. 53, No. 2. pp. 61-65.

RIS

TY - JOUR

T1 - 22q11.2 microduplication in two patients with bladder exstrophy and hearing impairment

AU - Lundin, Johanna

AU - Soderhall, Cilla

AU - Lunden, Lina

AU - Hammarsjo, Anna

AU - White, Irene

AU - Schoumans, Jacqueline

AU - Lackgren, Goran

AU - Clementson Kockum, Christina

AU - Nordenskjold, Agneta

PY - 2010

Y1 - 2010

N2 - Bladder exstrophy is a congenital malformation of the bladder and urethra. The genetic basis of this malformation is unknown however it is well known that chromosomal aberrations can lead to defects in organ development. A few bladder exstrophy patients have been described to carry chromosomal aberrations. Chromosomal rearrangements of 22q11.2 are implicated in several genomic disorders i.e. DiGeorge/velocardiofacial- and cat-eye syndrome. Deletions within this chromosomal region are relatively common while duplications of 22q11.2 are much less frequently observed. An increasing number of reports of microduplications of this region describe a highly variable phenotype. We have performed array-CGH analysis of 36 Swedish bladder exstrophy patients. The analysis revealed a similar and approximately 3 Mb duplication, consistent with the recently described 22q11.2 microduplication syndrome, in two unrelated cases with bladder exstrophy and hearing impairment. This finding was confirmed by multiplex ligation-dependent probe amplification (MLPA) and FISH analysis. Subsequent MLPA analysis of this chromosomal region in 33 bladder exstrophy patients did not reveal any deletion/duplication within this region. MLPA analysis of 171 anonymous control individuals revealed one individual carrying this microduplication. This is the first report of 22q11.2 microduplication associated with bladder exstrophy and hearing impairment. Furthermore the finding of one carrier among a cohort of normal controls further highlights the variable phenotype linked to this microduplication syndrome. (C) 2010 Elsevier Masson SAS. All rights reserved.

AB - Bladder exstrophy is a congenital malformation of the bladder and urethra. The genetic basis of this malformation is unknown however it is well known that chromosomal aberrations can lead to defects in organ development. A few bladder exstrophy patients have been described to carry chromosomal aberrations. Chromosomal rearrangements of 22q11.2 are implicated in several genomic disorders i.e. DiGeorge/velocardiofacial- and cat-eye syndrome. Deletions within this chromosomal region are relatively common while duplications of 22q11.2 are much less frequently observed. An increasing number of reports of microduplications of this region describe a highly variable phenotype. We have performed array-CGH analysis of 36 Swedish bladder exstrophy patients. The analysis revealed a similar and approximately 3 Mb duplication, consistent with the recently described 22q11.2 microduplication syndrome, in two unrelated cases with bladder exstrophy and hearing impairment. This finding was confirmed by multiplex ligation-dependent probe amplification (MLPA) and FISH analysis. Subsequent MLPA analysis of this chromosomal region in 33 bladder exstrophy patients did not reveal any deletion/duplication within this region. MLPA analysis of 171 anonymous control individuals revealed one individual carrying this microduplication. This is the first report of 22q11.2 microduplication associated with bladder exstrophy and hearing impairment. Furthermore the finding of one carrier among a cohort of normal controls further highlights the variable phenotype linked to this microduplication syndrome. (C) 2010 Elsevier Masson SAS. All rights reserved.

KW - 22q11.2 microduplication

KW - Bladder exstrophy

KW - Hearing impairment

KW - syndrome

KW - Array-CGH

U2 - 10.1016/j.ejmg.2009.11.004

DO - 10.1016/j.ejmg.2009.11.004

M3 - Article

C2 - 20045748

VL - 53

SP - 61

EP - 65

JO - European Journal of Medical Genetics

JF - European Journal of Medical Genetics

SN - 1769-7212

IS - 2

ER -