20p11 deletion in a female child with panhypopituitarism, cleft lip and palate, dysmorphic facial features, global developmental delay and seizure disorder.

Abstract excerpt

Deletions of 20p are rare with the majority of reported cases involving individuals with 20p12 deletions associated with Alagille syndrome. We report on a child with a de novo mosaic 20p11 deletion who presents with panhypopituitarism; hypoplastic pituitary gland and ectopic posterior pituitary gland on MRI of the brain; cleft lip and palate; kyphosis with anterior beaking of L1 and L2 vertebral bodies; pulmonic...

Topics

• Abnormalities, Multiple
• Brain
• Chromosome Aberrations
• Chromosomes, Human, Pair 20
• Comparative Genomic Hybridization
• Developmental Disabilities
• Female
• Humans
• Hypopituitarism
• In Situ Hybridization, Fluorescence