Isochromosome 22 in trisomy 22 mosaic with five cell lines.
This report describes a full-term male infant with trisomy 22 due to an isochromosome 22. Prenatal diagnosis with amniotic fluid showed two cell lines, one with an isochromosome 22 and the other with a deleted isochromosome 22. Subsequent cytogenetic analyses of cord blood, umbilical cord tissue, and placenta revealed additional cell lines. A normal cell line was found in umbilical cord tissue and two of three placental sites. The newborn had numerous dysmorphic features and died within 48 hrs of birth.
Guzé
Carol
C
Genetics Unit, Department of Obstetrics and Gynecology, King Drew Medical Center, 12021 S. Wilmington Avenue, Los Angeles, CA 90059, USA. carol@carolguze.com
Qin
Naigeng
N
Kelly
JoAnn
J
Yang
Xiaojing
X
Bruni
Roberta
R
Baker
Debra
D
Hassan
Rosetta
R
D000015:Abnormalities, Multiple; D002460:Cell Line; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D017809:Fatal Outcome; D005312:Fetal Blood; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010920:Placenta; D011296:Prenatal Diagnosis; D014314:Trisomy; D014470:Umbilical Cord