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Isochromosome 22 in trisomy 22 mosaic with five cell lines
Author(s) -
Guzé Carol,
Qin Naigeng,
Kelly JoAnn,
Yang Xiaojing,
Bruni Roberta,
Baker Debra,
Hassan Rosetta
Publication year - 2003
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.20365
Subject(s) - isochromosome , umbilical cord , trisomy , amniotic fluid , biology , medicine , fetus , pregnancy , genetics , karyotype , chromosome , gene
Abstract 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. © 2003 Wiley‐Liss, Inc.