Prenatal diagnosis of double autosomal mosaicism (47,XX,+8/47,XX,+14): phenotype and molecular cytogenetic analysis on different tissues.
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.
Matheson
Jolie K B
JK
Division of Reproductive Genetics of the University of Illinois at Chicago, Ill., USA.
Matheson
Victor A
VA
McCorquodale
Maureen
M
Santolaya-Forgas
Joaquin
J
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology*; D000649:Amniocentesis; D002972:Cleft Palate / Q000235:genetics / Q000473:pathology; D003025:Clubfoot / Q000235:genetics / Q000473:pathology; D017809:Fatal Outcome; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics / Q000473:pathology; D006554:Hernia, Umbilical / Q000235:genetics / Q000473:pathology; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D009030:Mosaicism / Q000473:pathology*; D010641:Phenotype; D011247:Pregnancy; D014314:Trisomy