TY  - GEN
AU  - Naoufal,Rania
AU  - Legendre,Marine
AU  - Couet,Dominique
AU  - Gilbert-Dussardier,Brigitte
AU  - Kitzis,Alain
AU  - Bilan,Frederic
AU  - Harbuz,Radu
TI  - Association of structural and numerical anomalies of chromosome 22 in a patient with syndromic intellectual disability
SN  - 1878-0849
PY  - 2017///0202
KW  - Adult
KW  - Chromosome Aberrations
KW  - Chromosome Deletion
KW  - Chromosome Disorders
KW  - genetics
KW  - Chromosomes, Human, Pair 22
KW  - Comparative Genomic Hybridization
KW  - methods
KW  - Developmental Disabilities
KW  - Humans
KW  - In Situ Hybridization, Fluorescence
KW  - Intellectual Disability
KW  - Karyotyping
KW  - Language Development Disorders
KW  - Male
KW  - Mosaicism
KW  - Trisomy
KW  - Uniparental Disomy
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1016/j.ejmg.2016.07.001
ER  -