Abstract |
Trisomy 14 mosaicism is a rare chromosomal abnormality with distinct and recognizable clinical features. We describe two previously unreported abnormalities in this condition and delineate physical and psychomotor features and concerns for medical management. Trisomy 14 mosaicism should be suspected in individuals who have the features described herein, thus prompting cytogenetic evaluation of blood, and possibly other tissues for diagnosis.
|
Authors | M Fran Lynch, Caraciolo J Fernandes, Lisa G Shaffer, Lorraine Potocki |
Journal | Journal of perinatology : official journal of the California Perinatal Association
(J Perinatol)
Vol. 24
Issue 2
Pg. 121-3
(Feb 2004)
ISSN: 0743-8346 [Print] United States |
PMID | 14762456
(Publication Type: Journal Article, Review)
|
Topics |
- Chromosomes, Human, Pair 14
- Female
- Humans
- Infant, Newborn
- Mosaicism
- Trisomy
(diagnosis)
|