The ICF syndrome: new case and update

T J De Ravel; E Deckers; P L Alliet; P Petit; J P Fryns

The ICF syndrome: new case and update

T J De Ravel, E Deckers, P L Alliet, P Petit, J P Fryns

Research output: Contribution to journal › Scientific review › peer-review

12 Citations (Scopus)

Abstract

The ICF syndrome: New case and update: We report the clinical progress in a 5-year-old boy with the <<Immunodeficiency-Centromere Instability-Facial anomalies>> (ICF) syndrome. Early diagnosis and intervention has led to a good outcome. DNMT3B mutation analysis was negative, supporting genetic heterogeneity in this condition.

Original language	English
Pages (from-to)	379-385
Number of pages	7
Journal	Genetic Counseling (Geneva, Switzerland)
Volume	12
Issue number	4
Publication status	Published - 2001

Keywords

Agammaglobulinemia/genetics
Centromere
Child, Preschool
Chromosome Aberrations
Chromosomes, Human, Pair 1
Chromosomes, Human, Pair 16
Face/abnormalities
Female
Genetic Heterogeneity
Humans
Karyotyping
Male
Syndrome
gamma-Globulins/therapeutic use

Cite this

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title = "The ICF syndrome: new case and update",

abstract = "The ICF syndrome: New case and update: We report the clinical progress in a 5-year-old boy with the <<Immunodeficiency-Centromere Instability-Facial anomalies>> (ICF) syndrome. Early diagnosis and intervention has led to a good outcome. DNMT3B mutation analysis was negative, supporting genetic heterogeneity in this condition.",

keywords = "Agammaglobulinemia/genetics, Centromere, Child, Preschool, Chromosome Aberrations, Chromosomes, Human, Pair 1, Chromosomes, Human, Pair 16, Face/abnormalities, Female, Genetic Heterogeneity, Humans, Karyotyping, Male, Syndrome, gamma-Globulins/therapeutic use",

author = "{De Ravel}, {T J} and E Deckers and Alliet, {P L} and P Petit and Fryns, {J P}",

year = "2001",

language = "English",

volume = "12",

pages = "379--385",

journal = "Genetic Counseling",

issn = "1015-8146",

publisher = "Editions Medecine et Hygiene",

number = "4",

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TY - JOUR

T1 - The ICF syndrome

T2 - new case and update

AU - De Ravel, T J

AU - Deckers, E

AU - Alliet, P L

AU - Petit, P

AU - Fryns, J P

PY - 2001

Y1 - 2001

N2 - The ICF syndrome: New case and update: We report the clinical progress in a 5-year-old boy with the <<Immunodeficiency-Centromere Instability-Facial anomalies>> (ICF) syndrome. Early diagnosis and intervention has led to a good outcome. DNMT3B mutation analysis was negative, supporting genetic heterogeneity in this condition.

AB - The ICF syndrome: New case and update: We report the clinical progress in a 5-year-old boy with the <<Immunodeficiency-Centromere Instability-Facial anomalies>> (ICF) syndrome. Early diagnosis and intervention has led to a good outcome. DNMT3B mutation analysis was negative, supporting genetic heterogeneity in this condition.

KW - Agammaglobulinemia/genetics

KW - Centromere

KW - Child, Preschool

KW - Chromosome Aberrations

KW - Chromosomes, Human, Pair 1

KW - Chromosomes, Human, Pair 16

KW - Face/abnormalities

KW - Female

KW - Genetic Heterogeneity

KW - Humans

KW - Karyotyping

KW - Male

KW - Syndrome

KW - gamma-Globulins/therapeutic use

M3 - Scientific review

C2 - 11837609

VL - 12

SP - 379

EP - 385

JO - Genetic Counseling

JF - Genetic Counseling

SN - 1015-8146

IS - 4

ER -

The ICF syndrome: new case and update

Abstract

Keywords

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