Prenatal studies of a family with 4p- mosaicism

Journal Article · Thu Sep 01 04:00:00 EDT 1994 · American Journal of Human Genetics

OSTI ID:134830

Pulijaal, V; Ben-Yishay, M; Nitowsky, H M ^[1]

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1. Albert Einstein College of Medicine, Bronx, NY (United States)

Mosaicism for an autosomal structural abnormality is rare. Only two cases have been reported for mosaicism involving a deletion of the short arm of number 4 chromosome (one prenatal and one postnatal). We report mosaicism for 4p- in the amniocyte cultures from a G3P2 41-year-old patient who had amniocentesis for advanced maternal age. Chromosome analysis of amniotic cultures by in situ and flask methods in Chang-supplemented McCoy`s medium revealed a mosaic karyotype, 46,XX/46,XX,del(4)(p13) with 15 (62.5%) and 9 (37.5%) metaphases, respectively. Parental blood chromosome studies yielded a paternal mosaic karyotype with 2 out of 98 cells (2%) exhibiting a deletion in the short arm of number 4 chromosome (46,XX,del(4)(p13)) as seen in the fetus. After genetic counseling, the family decided to terminate the pregnancy. Studies of fetal tissue confirmed the amniocentesis results for 4p- mosaicism (18.3%). Cytogenetic studies in father confirmed mosaicism for 4p- in fibroblast cultures from skin (2%). In none of the blood or skin fibroblast cultures was there evidence of a spontaneous fragile site at 4p13. However, cytogenetic studies of peripheral blood under conditions of folate deprivation (medium 199) showed a fragile site at 4q13 in 30% of the metaphases and 4p- cells are absent. The coincidence of the breakpoints and folate-induced fragile site in 4p- may be related phenomena in this family.

• OSTI ID: 134830
• Report Number(s): CONF-941009--
• Journal Information: American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: Suppl.3 Vol. 55; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
ABORTION
DETECTION
EMBRYONIC CELLS
FETUSES
GENETICS
HEREDITARY DISEASES
HUMAN CHROMOSOMES
KARYOTYPE
MITOSIS
MOSAICISM