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-DramardA 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

Department of Clinical Genetics

51 Citations (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.

Original language	English
Journal	Journal of Medical Genetics
Volume	49
Issue number	2
Pages (from-to)	104-9
Number of pages	6
ISSN	0022-2593
DOIs	https://doi.org/10.1136/jmedgenet-2011-100534
Publication status	Published - 2012

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

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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

A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features. / Molin, Anna-Maja; Andrieux, J; Koolen, D A et al.
In: Journal of Medical Genetics, Vol. 49, No. 2, 2012, p. 104-9.

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

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, vol. 49, no. 2, pp. 104-9. https://doi.org/10.1136/jmedgenet-2011-100534

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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.",

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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

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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

UR - https://www.scopus.com/pages/publications/84856007083

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

Keywords

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