Research ExplorerPublicationsMicrodeletion syndrome 16p11.2-p12.2

Microdeletion syndrome 16p11.2-p12.2

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Microdeletion syndrome 16p11.2-p12.2 : clinical and molecular characterization. / Hempel, Maja; Rivera Brugués, Nuria; Wagenstaller, Janine; Lederer, Gaby; Weitensteiner, Andrea; Seidel, Heide; Meitinger, Thomas; Strom, Tim M.

In: AM J MED GENET A, Vol. 149A, No. 10, 10.2009, p. 2106-12.

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

Harvard

Hempel, M, Rivera Brugués, N, Wagenstaller, J, Lederer, G, Weitensteiner, A, Seidel, H, Meitinger, T & Strom, TM 2009, 'Microdeletion syndrome 16p11.2-p12.2: clinical and molecular characterization', AM J MED GENET A, vol. 149A, no. 10, pp. 2106-12. https://doi.org/10.1002/ajmg.a.33042

APA

Hempel, M., Rivera Brugués, N., Wagenstaller, J., Lederer, G., Weitensteiner, A., Seidel, H., Meitinger, T., & Strom, T. M. (2009). Microdeletion syndrome 16p11.2-p12.2: clinical and molecular characterization. AM J MED GENET A, 149A(10), 2106-12. https://doi.org/10.1002/ajmg.a.33042

Vancouver

Hempel M, Rivera Brugués N, Wagenstaller J, Lederer G, Weitensteiner A, Seidel H et al. Microdeletion syndrome 16p11.2-p12.2: clinical and molecular characterization. AM J MED GENET A. 2009 Oct;149A(10):2106-12. https://doi.org/10.1002/ajmg.a.33042

Bibtex

@article{0c71742ef71544b8a503047f4f2d6ae2,
title = "Microdeletion syndrome 16p11.2-p12.2: clinical and molecular characterization",
abstract = "The pericentromeric region on 16p appears to be susceptible to chromosomal rearrangements and several patients with rearrangements in this region have been described. We report on a further patient with a microdeletion 16p11.2-p12.2 in the context of described patients with a deletion in the pericentromeric region of 16p. Minor facial anomalies, feeding difficulties, significant delay in speech development, and recurrent ear infections are common symptoms of the microdeletion syndrome 16p11.2-p12.2. All reported patients so far share a common distal breakpoint at 16p12.2 but vary in the proximal breakpoint at 16p11.2. The microdeletion 16p11.2-p12.2 should be distinguished from the approximately 500 kb microdeletion in 16p11.2 which seems to be associated with autism but not with facial manifestations, feeding difficulties, or developmental delay.",
keywords = "Abnormalities, Multiple, Adolescent, Chromosome Deletion, Chromosomes, Human, Pair 16, Follow-Up Studies, Humans, Language Development Disorders, Male, Otitis, Syndrome",
author = "Maja Hempel and {Rivera Brugu{\'e}s}, Nuria and Janine Wagenstaller and Gaby Lederer and Andrea Weitensteiner and Heide Seidel and Thomas Meitinger and Strom, {Tim M}",
year = "2009",
month = oct,
doi = "10.1002/ajmg.a.33042",
language = "English",
volume = "149A",
pages = "2106--12",
journal = "AM J MED GENET A",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",
number = "10",

}

RIS

TY - JOUR

T1 - Microdeletion syndrome 16p11.2-p12.2

T2 - clinical and molecular characterization

AU - Hempel, Maja

AU - Rivera Brugués, Nuria

AU - Wagenstaller, Janine

AU - Lederer, Gaby

AU - Weitensteiner, Andrea

AU - Seidel, Heide

AU - Meitinger, Thomas

AU - Strom, Tim M

PY - 2009/10

Y1 - 2009/10

N2 - The pericentromeric region on 16p appears to be susceptible to chromosomal rearrangements and several patients with rearrangements in this region have been described. We report on a further patient with a microdeletion 16p11.2-p12.2 in the context of described patients with a deletion in the pericentromeric region of 16p. Minor facial anomalies, feeding difficulties, significant delay in speech development, and recurrent ear infections are common symptoms of the microdeletion syndrome 16p11.2-p12.2. All reported patients so far share a common distal breakpoint at 16p12.2 but vary in the proximal breakpoint at 16p11.2. The microdeletion 16p11.2-p12.2 should be distinguished from the approximately 500 kb microdeletion in 16p11.2 which seems to be associated with autism but not with facial manifestations, feeding difficulties, or developmental delay.

AB - The pericentromeric region on 16p appears to be susceptible to chromosomal rearrangements and several patients with rearrangements in this region have been described. We report on a further patient with a microdeletion 16p11.2-p12.2 in the context of described patients with a deletion in the pericentromeric region of 16p. Minor facial anomalies, feeding difficulties, significant delay in speech development, and recurrent ear infections are common symptoms of the microdeletion syndrome 16p11.2-p12.2. All reported patients so far share a common distal breakpoint at 16p12.2 but vary in the proximal breakpoint at 16p11.2. The microdeletion 16p11.2-p12.2 should be distinguished from the approximately 500 kb microdeletion in 16p11.2 which seems to be associated with autism but not with facial manifestations, feeding difficulties, or developmental delay.

KW - Abnormalities, Multiple

KW - Adolescent

KW - Chromosome Deletion

KW - Chromosomes, Human, Pair 16

KW - Follow-Up Studies

KW - Humans

KW - Language Development Disorders

KW - Male

KW - Otitis

KW - Syndrome

U2 - 10.1002/ajmg.a.33042

DO - 10.1002/ajmg.a.33042

M3 - SCORING: Journal article

C2 - 19676056

VL - 149A

SP - 2106

EP - 2112

JO - AM J MED GENET A

JF - AM J MED GENET A

SN - 1552-4825

IS - 10

ER -