Genetic & Chromosomal
Chromosomal aneuploidies, microdeletions, and single-gene inherited disorders.
2 subcategories • 7 reference files
Chromosomal Aneuploidies & Structural Anomalies (2)
Moderate Down Syndrome (Trisomy 21)
Chromosomal Aneuploidy Syndrome
Apparent at birth (Screened prenatally; lifelong condition)
Moderate Turner Syndrome (45,X)
Sex Chromosome Aneuploidy Syndrome (Monosomy X)
Infancy through Adolescence (Often diagnosed in infancy due to physical features, or in adolescence due to short stature/amenorrhea; affects girls)
Single-Gene Disorders & Multi-System Deletions (5)
Severe Cystic Fibrosis (CF)
Autosomal Recessive Multi-System Exocrine Disorder
Infancy through Adulthood (Screened at birth; symptoms develop in infancy)
Moderate Williams Syndrome
Autosomal Dominant Microdeletion Syndrome
Apparent in infancy and early childhood (Lifelong condition)
Severe Prader-Willi Syndrome (PWS)
15q11-q13 Paternal Chromosomal Deletion Syndrome
Neonates through adulthood (recognized at birth due to hypotonia)
Moderate Fragile X Syndrome (FXS)
FMR1 Gene Trinucleotide Repeat Expansion Syndrome
Toddlers through adulthood (diagnosed as speech and social delays appear)
Severe Rett Syndrome
MECP2 Mutation X-Linked Neurodevelopmental Regression Disorder
Infants and toddlers (typically recognized between 6 to 18 months; almost exclusively in girls)