dos Santos, Ana Paula

Partial monosomy 21 (q11.2→q21.3) combined with 3p25.3→pter monosomy due to an unbalanced translocation in a patient presenting dysmorphic features and developmental delay. [electronic resource] - Gene Jan 2013 - 301-4 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1879-0038

10.1016/j.gene.2012.09.008 doi


Chromosome Deletion
Chromosomes, Human, Pair 21
Chromosomes, Human, Pair 3
Developmental Disabilities--etiology
Face--abnormalities
Female
Humans
In Situ Hybridization, Fluorescence
Infant
Karyotyping
Microsatellite Repeats
Monosomy
Translocation, Genetic