A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features

Anna-Maja Molin; J Andrieux; D A Koolen; V Malan; M Carella; L Colleaux; V Cormier-Daire; A David; N de Leeuw; B Delobel; B Duban-Bedu; R Fischetto; F Flinter; S Kjaergaard; F Kok; A C Krepischi; C Le Caignec; C Mackie Ogilvie; S Maia; M Mathieu-Dramard; A Munnich; O Palumbo; F Papadia; R Pfundt; W Reardon; A Receveur; M Rio; L Ronsbro Darling; C Rosenberg; J Sá; L Vallee; C Vincent-Delorme; L Zelante; M-L Bondeson; G Annerén

doi:10.1136/jmedgenet-2011-100534

A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features

Anna-Maja Molin
, J Andrieux
, D A Koolen
, V Malan
, M Carella
, L Colleaux
, V Cormier-Daire
, A David
, N de Leeuw
, B Delobel
, B Duban-Bedu
, R Fischetto
, F Flinter
, S Kjaergaard
, F Kok
, A C Krepischi
, C Le Caignec
, C Mackie Ogilvie
, S Maia
, M Mathieu-Dramard

A Munnich, O Palumbo, F Papadia, R Pfundt, W Reardon, A Receveur, M Rio, L Ronsbro Darling, C Rosenberg, J Sá, L Vallee, C Vincent-Delorme, L Zelante, M-L Bondeson, G Annerén

Afdeling for Genetik DIA

52 Citationer (Scopus)

Abstract

Congenital deletions affecting 3q11q23 have rarely been reported and only five cases have been molecularly characterised. Genotype-phenotype correlation has been hampered by the variable sizes and breakpoints of the deletions. In this study, 14 novel patients with deletions in 3q11q23 were investigated and compared with 13 previously reported patients.

Originalsprog	Engelsk
Tidsskrift	Journal of Medical Genetics
Vol/bind	49
Udgave nummer	2
Sider (fra-til)	104-9
Antal sider	6
ISSN	0022-2593
DOI	https://doi.org/10.1136/jmedgenet-2011-100534
Status	Udgivet - 2012

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10.1136/jmedgenet-2011-100534

Citationsformater

Molin, A.-M., Andrieux, J., Koolen, D. A., Malan, V., Carella, M., Colleaux, L., Cormier-Daire, V., David, A., de Leeuw, N., Delobel, B., Duban-Bedu, B., Fischetto, R., Flinter, F., Kjaergaard, S., Kok, F., Krepischi, A. C., Le Caignec, C., Ogilvie, C. M., Maia, S., ... Annerén, G. (2012). A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features. Journal of Medical Genetics, 49(2), 104-9. https://doi.org/10.1136/jmedgenet-2011-100534

Molin, A-M, Andrieux, J, Koolen, DA, Malan, V, Carella, M, Colleaux, L, Cormier-Daire, V, David, A, de Leeuw, N, Delobel, B, Duban-Bedu, B, Fischetto, R, Flinter, F, Kjaergaard, S, Kok, F, Krepischi, AC, Le Caignec, C, Ogilvie, CM, Maia, S, Mathieu-Dramard, M, Munnich, A, Palumbo, O, Papadia, F, Pfundt, R, Reardon, W, Receveur, A, Rio, M, Ronsbro Darling, L, Rosenberg, C, Sá, J, Vallee, L, Vincent-Delorme, C, Zelante, L, Bondeson, M-L & Annerén, G 2012, 'A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features', Journal of Medical Genetics, bind 49, nr. 2, s. 104-9. https://doi.org/10.1136/jmedgenet-2011-100534

@article{3e34dc3423284f5d8a7e8c7bd085acc4,

title = "A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features",

abstract = "Congenital deletions affecting 3q11q23 have rarely been reported and only five cases have been molecularly characterised. Genotype-phenotype correlation has been hampered by the variable sizes and breakpoints of the deletions. In this study, 14 novel patients with deletions in 3q11q23 were investigated and compared with 13 previously reported patients.",

keywords = "Chromosome Deletion, Chromosomes, Human, Pair 3, Developmental Disabilities, Facies, Female, Genetic Association Studies, Genitalia, Male, Growth Disorders, Humans, Male, Nerve Tissue Proteins, Receptors, Dopamine D3, Syndrome, Transcription Factors",

author = "Anna-Maja Molin and J Andrieux and Koolen, \{D A\} and V Malan and M Carella and L Colleaux and V Cormier-Daire and A David and \{de Leeuw\}, N and B Delobel and B Duban-Bedu and R Fischetto and F Flinter and S Kjaergaard and F Kok and Krepischi, \{A C\} and \{Le Caignec\}, C and Ogilvie, \{C Mackie\} and S Maia and M Mathieu-Dramard and A Munnich and O Palumbo and F Papadia and R Pfundt and W Reardon and A Receveur and M Rio and \{Ronsbro Darling\}, L and C Rosenberg and J S{\'a} and L Vallee and C Vincent-Delorme and L Zelante and M-L Bondeson and G Anner{\'e}n",

year = "2012",

doi = "10.1136/jmedgenet-2011-100534",

language = "English",

volume = "49",

pages = "104--9",

journal = "Journal of Medical Genetics",

issn = "0022-2593",

publisher = "BMJ Publishing Group",

number = "2",

}

TY - JOUR

T1 - A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features

AU - Molin, Anna-Maja

AU - Andrieux, J

AU - Koolen, D A

AU - Malan, V

AU - Carella, M

AU - Colleaux, L

AU - Cormier-Daire, V

AU - David, A

AU - de Leeuw, N

AU - Delobel, B

AU - Duban-Bedu, B

AU - Fischetto, R

AU - Flinter, F

AU - Kjaergaard, S

AU - Kok, F

AU - Krepischi, A C

AU - Le Caignec, C

AU - Ogilvie, C Mackie

AU - Maia, S

AU - Mathieu-Dramard, M

AU - Munnich, A

AU - Palumbo, O

AU - Papadia, F

AU - Pfundt, R

AU - Reardon, W

AU - Receveur, A

AU - Rio, M

AU - Ronsbro Darling, L

AU - Rosenberg, C

AU - Sá, J

AU - Vallee, L

AU - Vincent-Delorme, C

AU - Zelante, L

AU - Bondeson, M-L

AU - Annerén, G

PY - 2012

Y1 - 2012

N2 - Congenital deletions affecting 3q11q23 have rarely been reported and only five cases have been molecularly characterised. Genotype-phenotype correlation has been hampered by the variable sizes and breakpoints of the deletions. In this study, 14 novel patients with deletions in 3q11q23 were investigated and compared with 13 previously reported patients.

AB - Congenital deletions affecting 3q11q23 have rarely been reported and only five cases have been molecularly characterised. Genotype-phenotype correlation has been hampered by the variable sizes and breakpoints of the deletions. In this study, 14 novel patients with deletions in 3q11q23 were investigated and compared with 13 previously reported patients.

KW - Chromosome Deletion

KW - Chromosomes, Human, Pair 3

KW - Developmental Disabilities

KW - Facies

KW - Female

KW - Genetic Association Studies

KW - Genitalia, Male

KW - Growth Disorders

KW - Humans

KW - Male

KW - Nerve Tissue Proteins

KW - Receptors, Dopamine D3

KW - Syndrome

KW - Transcription Factors

U2 - 10.1136/jmedgenet-2011-100534

DO - 10.1136/jmedgenet-2011-100534

M3 - Journal article

C2 - 22180640

SN - 0022-2593

VL - 49

SP - 104

EP - 109

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

IS - 2

ER -

A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features

Abstract

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