Trisomy 4 mosaicism: Delineation of the phenotype

Arjan Bouman; Anne-Marie van der Kevie-Kersemaekers; Karin Huijsdens-van Amsterdam; Nordin Dahhan; Lia Knegt; Fleur Vansenne; Jan Maarten Cobben

doi:10.1002/ajmg.a.37522

Trisomy 4 mosaicism: Delineation of the phenotype

Arjan Bouman, Anne-Marie van der Kevie-Kersemaekers, Karin Huijsdens-van Amsterdam, Nordin Dahhan, Lia Knegt, Fleur Vansenne, Jan Maarten Cobben

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

Abstract

Trisomy 4 mosaicism in liveborns is very rare. We describe a 17-month-old girl with trisomy 4 mosaicism. Clinical findings in this patient are compared to previously reported patients. Based on the few descriptions available in the literature the common phenotype of trisomy 4 mosaicism seems to consist of IUGR, low birth weight/length/OFC, congenital heart defects, characteristic thumb anomalies (aplasia/hypoplasia), skin abnormalities (hypo-/hyperpigmentation), several dysmorphic features, and likely some degree of intellectual disability. When trisomy 4 mosaicism is suspected clinicians should be aware that a normal karyotype in lymphocytes does not exclude mosaicism for trisomy 4. This report contributes to a further delineation of the phenotype associated with trisomy 4 mosaicism.

Original language	English
Pages (from-to)	1040-5
Number of pages	6
Journal	American Journal of Medical Genetics. Part A
Volume	170A
Issue number	4
DOIs	https://doi.org/10.1002/ajmg.a.37522
Publication status	Published - Apr 2016
Externally published	Yes

Keywords

Abnormalities, Multiple/diagnosis
Chromosome Disorders/diagnosis
Chromosomes, Human, Pair 4
Comparative Genomic Hybridization
Facies
Female
Humans
In Situ Hybridization, Fluorescence
Infant
Karyotype
Mosaicism
Phenotype
Trisomy

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10.1002/ajmg.a.37522

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title = "Trisomy 4 mosaicism: Delineation of the phenotype",

abstract = "Trisomy 4 mosaicism in liveborns is very rare. We describe a 17-month-old girl with trisomy 4 mosaicism. Clinical findings in this patient are compared to previously reported patients. Based on the few descriptions available in the literature the common phenotype of trisomy 4 mosaicism seems to consist of IUGR, low birth weight/length/OFC, congenital heart defects, characteristic thumb anomalies (aplasia/hypoplasia), skin abnormalities (hypo-/hyperpigmentation), several dysmorphic features, and likely some degree of intellectual disability. When trisomy 4 mosaicism is suspected clinicians should be aware that a normal karyotype in lymphocytes does not exclude mosaicism for trisomy 4. This report contributes to a further delineation of the phenotype associated with trisomy 4 mosaicism.",

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author = "Arjan Bouman and {van der Kevie-Kersemaekers}, Anne-Marie and {Huijsdens-van Amsterdam}, Karin and Nordin Dahhan and Lia Knegt and Fleur Vansenne and Cobben, {Jan Maarten}",

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doi = "10.1002/ajmg.a.37522",

language = "English",

volume = "170A",

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T1 - Trisomy 4 mosaicism

T2 - Delineation of the phenotype

AU - Bouman, Arjan

AU - van der Kevie-Kersemaekers, Anne-Marie

AU - Huijsdens-van Amsterdam, Karin

AU - Dahhan, Nordin

AU - Knegt, Lia

AU - Vansenne, Fleur

AU - Cobben, Jan Maarten

PY - 2016/4

Y1 - 2016/4

N2 - Trisomy 4 mosaicism in liveborns is very rare. We describe a 17-month-old girl with trisomy 4 mosaicism. Clinical findings in this patient are compared to previously reported patients. Based on the few descriptions available in the literature the common phenotype of trisomy 4 mosaicism seems to consist of IUGR, low birth weight/length/OFC, congenital heart defects, characteristic thumb anomalies (aplasia/hypoplasia), skin abnormalities (hypo-/hyperpigmentation), several dysmorphic features, and likely some degree of intellectual disability. When trisomy 4 mosaicism is suspected clinicians should be aware that a normal karyotype in lymphocytes does not exclude mosaicism for trisomy 4. This report contributes to a further delineation of the phenotype associated with trisomy 4 mosaicism.

AB - Trisomy 4 mosaicism in liveborns is very rare. We describe a 17-month-old girl with trisomy 4 mosaicism. Clinical findings in this patient are compared to previously reported patients. Based on the few descriptions available in the literature the common phenotype of trisomy 4 mosaicism seems to consist of IUGR, low birth weight/length/OFC, congenital heart defects, characteristic thumb anomalies (aplasia/hypoplasia), skin abnormalities (hypo-/hyperpigmentation), several dysmorphic features, and likely some degree of intellectual disability. When trisomy 4 mosaicism is suspected clinicians should be aware that a normal karyotype in lymphocytes does not exclude mosaicism for trisomy 4. This report contributes to a further delineation of the phenotype associated with trisomy 4 mosaicism.

KW - Abnormalities, Multiple/diagnosis

KW - Chromosome Disorders/diagnosis

KW - Chromosomes, Human, Pair 4

KW - Comparative Genomic Hybridization

KW - Facies

KW - Female

KW - Humans

KW - In Situ Hybridization, Fluorescence

KW - Infant

KW - Karyotype

KW - Mosaicism

KW - Phenotype

KW - Trisomy

U2 - 10.1002/ajmg.a.37522

DO - 10.1002/ajmg.a.37522

M3 - Article

C2 - 26789019

SN - 1552-4825

VL - 170A

SP - 1040

EP - 1045

JO - American Journal of Medical Genetics. Part A

JF - American Journal of Medical Genetics. Part A

IS - 4

ER -

Trisomy 4 mosaicism: Delineation of the phenotype

Abstract

Keywords

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