Trisomy 5 mosaicism detected prenatally with an affected liveborn

This paper reports a case of chromosomal mosaicism for trisomy 5 recovered from amniotic fluid cells and from skin fibroblasts of a liveborn dysmorphic male. Routine amniocentesis was performed at 16 weeks' gestation because of parental concern. Trisomy 5 cells were measured from 25 per cent of...

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Bibliographic Details
Published in:	Prenatal diagnosis Vol. 12; no. 6; p. 477
Main Authors:	Sciorra, L J, Hux, C, Day-Salvadore, D, Lee, M L, Mandelbaum, D E, Brady-Yasbin, S, Frybury, J, Mahoney, M J, Dimaio, M S
Format:	Journal Article
Language:	English
Published:	England 01-06-1992
Subjects:	Abnormalities, Multiple - genetics Adult Amniocentesis Chromosome Aberrations - genetics Chromosome Disorders Chromosomes, Human, Pair 5 Diaphragm - abnormalities Female Fetal Growth Retardation - diagnostic imaging Fetal Growth Retardation - genetics Heart Septal Defects - genetics Humans Male Mosaicism Placenta - ultrastructure Pregnancy Pregnancy Outcome - genetics Skin - ultrastructure Trisomy Ultrasonography, Prenatal
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Summary:	This paper reports a case of chromosomal mosaicism for trisomy 5 recovered from amniotic fluid cells and from skin fibroblasts of a liveborn dysmorphic male. Routine amniocentesis was performed at 16 weeks' gestation because of parental concern. Trisomy 5 cells were measured from 25 per cent of amniocytes from two culture vessels. No further invasive testing was performed until 32 weeks' gestation, at which time ultrasound examination showed a fetus with intrauterine growth retardation. Fetal blood sampling was then performed, with only karyotypically normal cells recovered. At birth, the child was found to have multiple dysmorphic features and congenital anomalies, including an eventration of the diaphragm and ventricular septal defect, both of which required surgical correction. Chromosomal analysis of cord blood lymphocytes indicated 46,XY; however, 20 per cent of the cultured fibroblasts obtained from the chest skin at the incision site for diaphragmatic repair had a 47,XY, +5 karyotype. Trisomy 5 mosaicism may be another example of tissue-limited mosaicism. Fetal blood sampling can then be falsely reassuring. Furthermore, because some cell lines rarely appear in lymphocyte populations, cytogenetic analysis of multiple tissues is warranted as part of the evaluation of individuals with developmental delay and dysmorphic features.
ISSN:	0197-3851
DOI:	10.1002/pd.1970120602