Early prenatal diagnosis of the ICF syndrome

Prenatal Diagnosis

Volumn 20, Issue 10, 2000, Pages 828-831

  Björck, Erik J ^a   Bui, The Hung ^a   Wijmenga, Cisca ^b   Grandell, Ulla ^a   Nordenskjöld, Magnus ^a  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^b UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

Author keywords

Chromosome 20; ICF syndrome; Linkage analysis; Prenatal diagnosis

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CENTROMERE; CHORION VILLUS SAMPLING; CHROMOSOME 1; CHROMOSOME 16; CHROMOSOME 9; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; EARLY DIAGNOSIS; FACE MALFORMATION; FEMALE; GENE LOCUS; GENETIC COUNSELING; GENETIC LINKAGE; GENETIC MARKER; HETEROZYGOSITY; HUMAN; IMMUNE DEFICIENCY; LYMPHOCYTE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SECOND TRIMESTER PREGNANCY;

ADULT; CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 1; CHROMOSOMES, HUMAN, PAIR 20; FACE; FEMALE; FETAL DISEASES; GENETIC COUNSELING; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; INFANT, NEWBORN; MALE; PEDIGREE; PREGNANCY; PREGNANCY TRIMESTER, FIRST; PRENATAL DIAGNOSIS; SYNDROME;

EID: 0033744874     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/1097-0223(200010)20:10<828::AID-PD907>3.0.CO;2-B     Document Type: Article

References (15)

1. Abnormal methylation does not prevent X inactivation in ICF patients
2. ICF syndrome (immunodeficiency, centromeric instability and facial anomalies): Investigation of heterochromatin abnormalities and review of clinical outcome
3. Current perspectives and new developments in ultrasound guided invasive procedures for prenatal diagnosis and therapy
4. Fragility of the centromeric region of chromosome 1 associated with combined immunodeficiency in siblings. A recessively inherited entity?
5. The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome
6. Selective somatic pairing and fragility at 1q12 in a boy with common variable immunodefiency
7. An embryonic-like methylation pattern of classical satellite DNA is observed in ICF syndrome
8. Immunodeficiency, centromeric heterochromatin instability of chromosomes 1, 9, and 16, and facial anomalies: The ICF syndrome
9. Heterochromatin decondensation in chromosomes from chorionic villus samples
10. ICF syndrome: A new case and review of the literature
11. A FISH study of chromosome fusion in the ICF syndrome: Involvement of paracentric heterochromatin but not of the centromeres themselves
12. Concurrent instability at specific sites of chromosomes 1, 9 and 16 resulting in multibranched structures
13. Multibranched chromosomes 1, 9, and 16 in a patient with combined IgA and IgE deficiency
14. Localization of the ICF syndrome to chromosome 20 by homozygosity mapping
15. Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene