Prenatal diagnosis of double autosomal mosaicism (47,XX,+8/47,XX,+14): phenotype and molecular cytogenetic analysis on different tissues

Jolie K B Matheson; Victor A Matheson; Maureen McCorquodale; Joaquin Santolaya-Forgas

doi:10.1159/000066380

Prenatal diagnosis of double autosomal mosaicism (47,XX,+8/47,XX,+14): phenotype and molecular cytogenetic analysis on different tissues

Fetal Diagn Ther. 2003 Jan-Feb;18(1):29-32. doi: 10.1159/000066380.

Authors

Jolie K B Matheson¹, Victor A Matheson, Maureen McCorquodale, Joaquin Santolaya-Forgas

Affiliation

¹ Division of Reproductive Genetics of the University of Illinois at Chicago, Ill., USA.

PMID: 12566772
DOI: 10.1159/000066380

Abstract

A female fetus with multiple congenital anomalies was found to have double autosomal mosaicism, 47,XX,+8/ 47,XX,+14 on chromosome analysis via amniocentesis. At delivery, the proband displayed dysmorphic features of hypertelorism, micrognathia, low set ears, cleft palate, clubfeet, omphalocele, absent gallbladder and congenital heart defects. Fluorescence in situ hybridization demonstrated a marked discrepancy in cell line populations in the tissues examined.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / genetics*
Abnormalities, Multiple / pathology*
Amniocentesis
Cleft Palate / genetics
Cleft Palate / pathology
Clubfoot / genetics
Clubfoot / pathology
Fatal Outcome
Female
Heart Defects, Congenital / genetics
Heart Defects, Congenital / pathology
Hernia, Umbilical / genetics
Hernia, Umbilical / pathology
Humans
In Situ Hybridization, Fluorescence
Mosaicism / pathology*
Phenotype
Pregnancy
Trisomy*