Isochromosome 22 in trisomy 22 mosaic with five cell lines | Zendy

Guzé Carol | Zendy; Qin Naigeng | Zendy; Kelly JoAnn | Zendy; Yang Xiaojing | Zendy; Bruni Roberta | Zendy; Baker Debra | Zendy; Hassan Rosetta | Zendy

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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

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.

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