Trisomy 8 mosaicism syndrome. Two cases demonstrating variability in phenotype.

Abstract:

:The paper presents clinical manifestations and results of cytogenetic examination of two patients with trisomy 8 mosaicism syndrome. The findings confirm the extreme phenotype variability of this syndrome. Both the first patient, a mentally retarded child with multiple dysmorphic changes, and the second, a 31-year-old woman with normal IQ and hypogammaglobulinemia as a predominant sign, revealed osteoarticular anomalies. Dermatoglyphic studies in both patients were typical for trisomy 8, and correlated with deep skin furrows. The chromosomal analysis was based on two types of lymphocyte cultures: 3-day and 2-day. A decreased percentage of trisomic cells in 3-day cultures in comparison to 2-day cultures may suggest the influence of environmental factors on spontaneous elimination of trisomic cells in vitro.

journal_name

Clin Pediatr (Phila)

journal_title

Clinical pediatrics

authors

Kurtyka ZE,Krzykwa B,Piatkowska E,Radwan M,Pietrzyk JJ

doi

10.1177/000992288802701109

subject

Has Abstract

pub_date

1988-11-01 00:00:00

pages

557-64

issue

11

eissn

0009-9228

issn

1938-2707

journal_volume

27

pub_type

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