Isolated postaxial polydactyly type B with mosaicism of a submicroscopic unbalanced translocation leading to an extended phenotype in offspring

Robert-Jan H Galjaard; Herma C van der Linde; Bert H J Eussen; Bert B A de Vries; Cokkie H Wouters; Ben A Oostra; Esther de Graaff; Peter Heutink

doi:10.1002/ajmg.a.20165

Isolated postaxial polydactyly type B with mosaicism of a submicroscopic unbalanced translocation leading to an extended phenotype in offspring

Robert-Jan H Galjaard
, Herma C van der Linde
, Bert H J Eussen
, Bert B A de Vries
, Cokkie H Wouters
, Ben A Oostra
, Esther de Graaff
, Peter Heutink

Erasmus University Medical Center Rotterdam
extern

Research output: Contribution to journal › Article › Academic › peer-review

Abstract

Postaxial polydactyly (PAP) is characterized by the presence of one or more extra ulnar or fibular digits or parts of it. PAP type B presents frequently as a skin tag on the hand(s). It is usually an isolated malformation, but in 6.6% it is associated with other congenital abnormalities, mostly well recognizable syndromes. We present a male with PAP-B only and his daughter with an extended phenotype including mental retardation and minor dysmorphisms. Both share a cytogenetically balanced t(4;7)(p15.2;q35), present in mosaicism in the father. We found microdeletions associated with the breakpoints. The chromosomal regions described here have not been previously associated with the PAP-B phenotype. We present the first case of an individual with isolated PAP-B and a submicroscopic chromosome abnormality.

Original language	English
Pages (from-to)	168-73
Number of pages	6
Journal	American Journal of Medical Genetics, Part A
Volume	121A
Issue number	2
DOIs	https://doi.org/10.1002/ajmg.a.20165
Publication status	Published - 30 Aug 2003
Externally published	Yes

Bibliographical note

Keywords

Abnormalities, Multiple/genetics
Adolescent
Chromosome Disorders/genetics
Chromosomes, Human, Pair 4
Chromosomes, Human, Pair 7
Fathers
Female
Humans
In Situ Hybridization, Fluorescence
Intellectual Disability/genetics
Karyotyping
Male
Mosaicism
Phenotype
Polydactyly/genetics
Translocation, Genetic/genetics

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10.1002/ajmg.a.20165

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Galjaard, R.-J. H., van der Linde, H. C., Eussen, B. H. J., de Vries, B. B. A., Wouters, C. H., Oostra, B. A., de Graaff, E., & Heutink, P. (2003). Isolated postaxial polydactyly type B with mosaicism of a submicroscopic unbalanced translocation leading to an extended phenotype in offspring. American Journal of Medical Genetics, Part A, 121A(2), 168-73. https://doi.org/10.1002/ajmg.a.20165

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title = "Isolated postaxial polydactyly type B with mosaicism of a submicroscopic unbalanced translocation leading to an extended phenotype in offspring",

abstract = "Postaxial polydactyly (PAP) is characterized by the presence of one or more extra ulnar or fibular digits or parts of it. PAP type B presents frequently as a skin tag on the hand(s). It is usually an isolated malformation, but in 6.6\% it is associated with other congenital abnormalities, mostly well recognizable syndromes. We present a male with PAP-B only and his daughter with an extended phenotype including mental retardation and minor dysmorphisms. Both share a cytogenetically balanced t(4;7)(p15.2;q35), present in mosaicism in the father. We found microdeletions associated with the breakpoints. The chromosomal regions described here have not been previously associated with the PAP-B phenotype. We present the first case of an individual with isolated PAP-B and a submicroscopic chromosome abnormality.",

keywords = "Abnormalities, Multiple/genetics, Adolescent, Chromosome Disorders/genetics, Chromosomes, Human, Pair 4, Chromosomes, Human, Pair 7, Fathers, Female, Humans, In Situ Hybridization, Fluorescence, Intellectual Disability/genetics, Karyotyping, Male, Mosaicism, Phenotype, Polydactyly/genetics, Translocation, Genetic/genetics",

author = "Galjaard, \{Robert-Jan H\} and \{van der Linde\}, \{Herma C\} and Eussen, \{Bert H J\} and \{de Vries\}, \{Bert B A\} and Wouters, \{Cokkie H\} and Oostra, \{Ben A\} and \{de Graaff\}, Esther and Peter Heutink",

year = "2003",

month = aug,

day = "30",

doi = "10.1002/ajmg.a.20165",

language = "English",

volume = "121A",

pages = "168--73",

journal = "American Journal of Medical Genetics, Part A",

issn = "1552-4825",

publisher = "John Wiley and Sons Inc.",

number = "2",

}

Galjaard, R-JH, van der Linde, HC, Eussen, BHJ, de Vries, BBA, Wouters, CH, Oostra, BA, de Graaff, E & Heutink, P 2003, 'Isolated postaxial polydactyly type B with mosaicism of a submicroscopic unbalanced translocation leading to an extended phenotype in offspring', American Journal of Medical Genetics, Part A, vol. 121A, no. 2, pp. 168-73. https://doi.org/10.1002/ajmg.a.20165

Isolated postaxial polydactyly type B with mosaicism of a submicroscopic unbalanced translocation leading to an extended phenotype in offspring. / Galjaard, Robert-Jan H; van der Linde, Herma C; Eussen, Bert H J et al.
In: American Journal of Medical Genetics, Part A, Vol. 121A, No. 2, 30.08.2003, p. 168-73.

Research output: Contribution to journal › Article › Academic › peer-review

TY - JOUR

T1 - Isolated postaxial polydactyly type B with mosaicism of a submicroscopic unbalanced translocation leading to an extended phenotype in offspring

AU - Galjaard, Robert-Jan H

AU - van der Linde, Herma C

AU - Eussen, Bert H J

AU - de Vries, Bert B A

AU - Wouters, Cokkie H

AU - Oostra, Ben A

AU - de Graaff, Esther

AU - Heutink, Peter

PY - 2003/8/30

Y1 - 2003/8/30

N2 - Postaxial polydactyly (PAP) is characterized by the presence of one or more extra ulnar or fibular digits or parts of it. PAP type B presents frequently as a skin tag on the hand(s). It is usually an isolated malformation, but in 6.6% it is associated with other congenital abnormalities, mostly well recognizable syndromes. We present a male with PAP-B only and his daughter with an extended phenotype including mental retardation and minor dysmorphisms. Both share a cytogenetically balanced t(4;7)(p15.2;q35), present in mosaicism in the father. We found microdeletions associated with the breakpoints. The chromosomal regions described here have not been previously associated with the PAP-B phenotype. We present the first case of an individual with isolated PAP-B and a submicroscopic chromosome abnormality.

AB - Postaxial polydactyly (PAP) is characterized by the presence of one or more extra ulnar or fibular digits or parts of it. PAP type B presents frequently as a skin tag on the hand(s). It is usually an isolated malformation, but in 6.6% it is associated with other congenital abnormalities, mostly well recognizable syndromes. We present a male with PAP-B only and his daughter with an extended phenotype including mental retardation and minor dysmorphisms. Both share a cytogenetically balanced t(4;7)(p15.2;q35), present in mosaicism in the father. We found microdeletions associated with the breakpoints. The chromosomal regions described here have not been previously associated with the PAP-B phenotype. We present the first case of an individual with isolated PAP-B and a submicroscopic chromosome abnormality.

KW - Abnormalities, Multiple/genetics

KW - Adolescent

KW - Chromosome Disorders/genetics

KW - Chromosomes, Human, Pair 4

KW - Chromosomes, Human, Pair 7

KW - Fathers

KW - Female

KW - Humans

KW - In Situ Hybridization, Fluorescence

KW - Intellectual Disability/genetics

KW - Karyotyping

KW - Male

KW - Mosaicism

KW - Phenotype

KW - Polydactyly/genetics

KW - Translocation, Genetic/genetics

U2 - 10.1002/ajmg.a.20165

DO - 10.1002/ajmg.a.20165

M3 - Article

C2 - 12910499

SN - 1552-4825

VL - 121A

SP - 168

EP - 173

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

IS - 2

ER -

Isolated postaxial polydactyly type B with mosaicism of a submicroscopic unbalanced translocation leading to an extended phenotype in offspring

Abstract

Bibliographical note

Keywords

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