3q29 microdeletion syndrome: Clinical and molecular characterization of a new syndromeCitation formats

  • Authors:
  • Lionel Willatt
  • James Cox
  • John Barber
  • Elisabet Dachs Cabanas
  • Amanda Collins
  • And 14 others
  • External authors:
  • Dian Donnai
  • David R. FitzPatrick
  • Eddy Maher
  • Howard Martin
  • Josep Parnau
  • Lesley Pindar
  • Jacqueline Ramsay
  • Charles Shaw-Smith
  • Erik A. Sistermans
  • Michael Tettenborn
  • Dorothy Trump
  • Bert B A De Vries
  • Kate Walker
  • F. Lucy Raymond

Standard

3q29 microdeletion syndrome: Clinical and molecular characterization of a new syndrome. / Willatt, Lionel; Cox, James; Barber, John; Cabanas, Elisabet Dachs; Collins, Amanda; Donnai, Dian; FitzPatrick, David R.; Maher, Eddy; Martin, Howard; Parnau, Josep; Pindar, Lesley; Ramsay, Jacqueline; Shaw-Smith, Charles; Sistermans, Erik A.; Tettenborn, Michael; Trump, Dorothy; De Vries, Bert B A; Walker, Kate; Raymond, F. Lucy.

In: American Journal of Human Genetics, Vol. 77, No. 1, 07.2005, p. 154-160.

Research output: Contribution to journalArticle

Harvard

Willatt, L, Cox, J, Barber, J, Cabanas, ED, Collins, A, Donnai, D, FitzPatrick, DR, Maher, E, Martin, H, Parnau, J, Pindar, L, Ramsay, J, Shaw-Smith, C, Sistermans, EA, Tettenborn, M, Trump, D, De Vries, BBA, Walker, K & Raymond, FL 2005, '3q29 microdeletion syndrome: Clinical and molecular characterization of a new syndrome', American Journal of Human Genetics, vol. 77, no. 1, pp. 154-160. https://doi.org/10.1086/431653

APA

Willatt, L., Cox, J., Barber, J., Cabanas, E. D., Collins, A., Donnai, D., FitzPatrick, D. R., Maher, E., Martin, H., Parnau, J., Pindar, L., Ramsay, J., Shaw-Smith, C., Sistermans, E. A., Tettenborn, M., Trump, D., De Vries, B. B. A., Walker, K., & Raymond, F. L. (2005). 3q29 microdeletion syndrome: Clinical and molecular characterization of a new syndrome. American Journal of Human Genetics, 77(1), 154-160. https://doi.org/10.1086/431653

Vancouver

Willatt L, Cox J, Barber J, Cabanas ED, Collins A, Donnai D et al. 3q29 microdeletion syndrome: Clinical and molecular characterization of a new syndrome. American Journal of Human Genetics. 2005 Jul;77(1):154-160. https://doi.org/10.1086/431653

Author

Willatt, Lionel ; Cox, James ; Barber, John ; Cabanas, Elisabet Dachs ; Collins, Amanda ; Donnai, Dian ; FitzPatrick, David R. ; Maher, Eddy ; Martin, Howard ; Parnau, Josep ; Pindar, Lesley ; Ramsay, Jacqueline ; Shaw-Smith, Charles ; Sistermans, Erik A. ; Tettenborn, Michael ; Trump, Dorothy ; De Vries, Bert B A ; Walker, Kate ; Raymond, F. Lucy. / 3q29 microdeletion syndrome: Clinical and molecular characterization of a new syndrome. In: American Journal of Human Genetics. 2005 ; Vol. 77, No. 1. pp. 154-160.

Bibtex

@article{bb6e9f02c56c4fdd84ab1a2b188daa68,
title = "3q29 microdeletion syndrome: Clinical and molecular characterization of a new syndrome",
abstract = "We report the identification of six patients with 3q29 microdeletion syndrome. The clinical phenotype is variable despite an almost identical deletion size. The phenotype includes mild-to-moderate mental retardation, with only slightly dysmorphic facial features that are similar in most patients: a long and narrow face, short philtrum, and high nasal bridge. Autism, gait ataxia, chest-wall deformity, and long and tapering fingers were noted in at least two of six patients. Additional features-including microcephaly, cleft lip and palate, horseshoe kidney and hypospadias, ligamentous laxity, recurrent middle ear infections, and abnormal pigmentation-were observed, but each feature was only found once, in a single patient. The microdeletion is ∼1.5 Mb in length, with molecular boundaries mapping within the same or adjacent bacterial artificial chromosome (BAC) clones at either end of the deletion in all patients. The deletion encompasses 22 genes, including PAK2 and DLG1, which are autosomal homologues of two known X-linked mental retardation genes, PAK3 and DLG3. The presence of two nearly identical low-copy repeat sequences in BAC clones on each side of the deletion breakpoint suggests that nonallelic homologous recombination is the likely mechanism of disease causation in this syndrome. {\textcopyright} 2005 by The American Society of Human Genetics. All rights reserved.",
keywords = "genetics: Abnormalities, Multiple, Child, Child, Preschool, Chromosome Deletion, Chromosome Mapping, Chromosomes, Human, Pair 3, genetics: Craniofacial Abnormalities, Female, Humans, Infant, Male, genetics: Mental Retardation, Phenotype, Research Support, Non-U.S. Gov't, Syndrome",
author = "Lionel Willatt and James Cox and John Barber and Cabanas, {Elisabet Dachs} and Amanda Collins and Dian Donnai and FitzPatrick, {David R.} and Eddy Maher and Howard Martin and Josep Parnau and Lesley Pindar and Jacqueline Ramsay and Charles Shaw-Smith and Sistermans, {Erik A.} and Michael Tettenborn and Dorothy Trump and {De Vries}, {Bert B A} and Kate Walker and Raymond, {F. Lucy}",
year = "2005",
month = jul
doi = "10.1086/431653",
language = "English",
volume = "77",
pages = "154--160",
journal = "American Journal of Human Genetics",
issn = "0002-9297",
publisher = "Cell Press",
number = "1",

}

RIS

TY - JOUR

T1 - 3q29 microdeletion syndrome: Clinical and molecular characterization of a new syndrome

AU - Willatt, Lionel

AU - Cox, James

AU - Barber, John

AU - Cabanas, Elisabet Dachs

AU - Collins, Amanda

AU - Donnai, Dian

AU - FitzPatrick, David R.

AU - Maher, Eddy

AU - Martin, Howard

AU - Parnau, Josep

AU - Pindar, Lesley

AU - Ramsay, Jacqueline

AU - Shaw-Smith, Charles

AU - Sistermans, Erik A.

AU - Tettenborn, Michael

AU - Trump, Dorothy

AU - De Vries, Bert B A

AU - Walker, Kate

AU - Raymond, F. Lucy

PY - 2005/7

Y1 - 2005/7

N2 - We report the identification of six patients with 3q29 microdeletion syndrome. The clinical phenotype is variable despite an almost identical deletion size. The phenotype includes mild-to-moderate mental retardation, with only slightly dysmorphic facial features that are similar in most patients: a long and narrow face, short philtrum, and high nasal bridge. Autism, gait ataxia, chest-wall deformity, and long and tapering fingers were noted in at least two of six patients. Additional features-including microcephaly, cleft lip and palate, horseshoe kidney and hypospadias, ligamentous laxity, recurrent middle ear infections, and abnormal pigmentation-were observed, but each feature was only found once, in a single patient. The microdeletion is ∼1.5 Mb in length, with molecular boundaries mapping within the same or adjacent bacterial artificial chromosome (BAC) clones at either end of the deletion in all patients. The deletion encompasses 22 genes, including PAK2 and DLG1, which are autosomal homologues of two known X-linked mental retardation genes, PAK3 and DLG3. The presence of two nearly identical low-copy repeat sequences in BAC clones on each side of the deletion breakpoint suggests that nonallelic homologous recombination is the likely mechanism of disease causation in this syndrome. © 2005 by The American Society of Human Genetics. All rights reserved.

AB - We report the identification of six patients with 3q29 microdeletion syndrome. The clinical phenotype is variable despite an almost identical deletion size. The phenotype includes mild-to-moderate mental retardation, with only slightly dysmorphic facial features that are similar in most patients: a long and narrow face, short philtrum, and high nasal bridge. Autism, gait ataxia, chest-wall deformity, and long and tapering fingers were noted in at least two of six patients. Additional features-including microcephaly, cleft lip and palate, horseshoe kidney and hypospadias, ligamentous laxity, recurrent middle ear infections, and abnormal pigmentation-were observed, but each feature was only found once, in a single patient. The microdeletion is ∼1.5 Mb in length, with molecular boundaries mapping within the same or adjacent bacterial artificial chromosome (BAC) clones at either end of the deletion in all patients. The deletion encompasses 22 genes, including PAK2 and DLG1, which are autosomal homologues of two known X-linked mental retardation genes, PAK3 and DLG3. The presence of two nearly identical low-copy repeat sequences in BAC clones on each side of the deletion breakpoint suggests that nonallelic homologous recombination is the likely mechanism of disease causation in this syndrome. © 2005 by The American Society of Human Genetics. All rights reserved.

KW - genetics: Abnormalities, Multiple

KW - Child

KW - Child, Preschool

KW - Chromosome Deletion

KW - Chromosome Mapping

KW - Chromosomes, Human, Pair 3

KW - genetics: Craniofacial Abnormalities

KW - Female

KW - Humans

KW - Infant

KW - Male

KW - genetics: Mental Retardation

KW - Phenotype

KW - Research Support, Non-U.S. Gov't

KW - Syndrome

U2 - 10.1086/431653

DO - 10.1086/431653

M3 - Article

VL - 77

SP - 154

EP - 160

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

SN - 0002-9297

IS - 1

ER -