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High frequencies of ICF syndrome-like pericentromeric heterochromatin decondensation and breakage in chromosome 1 in a chorionic villus sample
  1. Melanie Ehrlicha,b,
  2. Fern Tsiena,
  3. Delma Herreraa,
  4. Viola Blackmana,
  5. Jennifer Roggenbuckc,
  6. Cathy M Tuck-Mullera,d
  1. aHuman Genetics Program/Hayward Genetics Center, Tulane Medical School, 1430 Tulane Avenue, New Orleans, LA 70112, USA, bDepartment of Biochemistry, Tulane Medical School, New Orleans, LA 70112, USA, cDepartments of Pediatrics and Obstetrics and Gynecology, Ochsner Clinic, New Orleans, LA 70121, USA, dDepartment of Medical Genetics, University of South Alabama, Mobile, AL 36688, USA
  1. Dr Ehrlich,ehrlich{at}

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Editor—The immunodeficiency, centromeric region instability, and facial anomalies syndrome (ICF) usually involves mutations affecting the catalytic domain inDNMT3B, one of the three human genes known to encode DNA methyltransferases.1-3 ICF always results in defective immunity, a high frequency of chromosomal abnormalities in the vicinity of the centromere (pericentromeric region) of chromosome 1 and/or chromosome 16 in mitogen stimulated lymphocytes, and hypomethylation of a small portion of the genome.4-6 ICF symptoms are manifested often from infancy and this syndrome can cause early childhood death from infections. The DNA sequences targeted for undermethylation in ICF include the heterochromatin adjacent to the centromeres of chromosomes 1 and 16 (1qh and 16qh), where a high incidence of chromatin decondensation, chromosome and chromatid breaks, and rearrangements to form multiradial chromosomes are characteristically seen in mitogen stimulated ICF blood cultures and in ICF lymphoblastoid cell lines.6-9 These aberrations are more common in chromosome 1 than in chromosome 16 and only infrequently observed in chromosome 9.5 8 9 We describe an unusual primary culture from a chorionic villus (CV) biopsy in which a high frequency of ICF-like chromosomal abnormalities was observed. However, follow up indicated that the infant did not have ICF.

A 30 year old, gravida 4, para 0, ab 3 white female was referred for genetic counselling and CV sampling because of a previous pregnancy with trisomy 13. Both the patient and her husband were phenotypically normal and healthy apart from their reproductive history. The patient's first two pregnancies ended in spontaneous abortion at 15 and 10 weeks. No fetal studies had been performed; parental chromosomes were analysed and reported to be normal. The third pregnancy was found to be affected with trisomy 13 (47,XY,+13) and was then terminated. During the fourth pregnancy, the patient was offered and …

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