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- Title
De Novo San Luis Valley Syndrome-like der(8) Chromosome With a Concomitant dup(8p22) in a Mexican Girl.
- Authors
Sánchez-Casillas, Alma Laura; Rivera, Horacio; Castro-Martínez, Anna Gabriela; García-Ortiz, José Elías; Córdova-Fletes, Carlos; Mendoza-Pérez, Paul
- Abstract
The article presents a case study of a Mexican girl from 27-yr-old mother and a nonconsanguineous, 37-yr-old father with de novo Luis Valley Syndrome with concomitant of duplication. Problems like mild intellectual disability, craniofacial dysmorphisms, and deep plantar creases but not cardiac abnormalities appear in developmental age. The chromosomes of patient and her parents were analyzed on G-banded lymphocyte metaphases. Aberration and single nucleotide polymorphism (SNP) revealed de novo.
- Subjects
INTELLECTUAL disabilities; CARDIOVASCULAR diseases; CHROMOSOMES; ACHROMATISM; CHROMOSOME abnormalities
- Publication
Annals of Laboratory Medicine, 2017, Vol 37, Issue 1, p88
- ISSN
2234-3806
- Publication type
Case Study
- DOI
10.3343/alm.2017.37.1.88