Article
[Diploid/triploid mosaicism: a variable but characteristic phenotype].
Revista de neurologia - 16 Aug 2014
Natera-De Benito Daniel, Poo Pilar, Gean Esther, Vicente-Villa Asunción, García-Cazorla Angels, Fons-Estupiña M Carmen
Abstract excerpt
INTRODUCTION: Diploid/triploid mosaicism is a rare chromosomal abnormality. It is caused by a failure in the postzygotic division during embryonic development. It results in the coexistence of two genetically heterogeneous cell lines (46,XX and 69,XXX) in one individual. His clinical phenotype is characteristic. Pigmentary changes with a distribution pattern following Blaschko's lines abnormalities in other...
Topics
- Abnormal Karyotype
- Abnormalities, Multiple
- Abortion, Habitual
- Epilepsy, Absence
- Face
- Female
- Fetal Growth Retardation
- Fibroblasts
- Heart Defects, Congenital
- Humans
- Hypopigmentation
- Infant, Newborn
- Infant, Small for Gestational Age
- Intellectual Disability
- Lymphocytes
- Mosaicism
- Obesity, Abdominal
- Phenotype