Genotype-phenotype Correlations in Down Syndrome Identified by Array CGH in 30 Cases of Partial Trisomy and Partial Monosomy 21

TY - JOUR

T1 - Genotype-phenotype Correlations in Down Syndrome Identified by Array CGH in 30 Cases of Partial Trisomy and Partial Monosomy 21

AU - Descartes, et al, Maria

AU - Descartes, Maria

N1 - Down syndrome (DS) is one of the most frequent congenital birth defects, and the most common genetic cause of mental retardation. In most cases, DS results from the presence of an extra copy of chromosome 21. DS has a complex phenotype, and a major goal of DS research is to identify genotype-phenoty ...

PY - 2009

Y1 - 2009

UR - https://pubmed.ncbi.nlm.nih.gov/19002211/

M3 - Article

VL - 4

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

ER -