Duplication of 12q24.21q24.33 in a Girl with Epilepsy, Expanding the Phenotype.

Introduction: Duplication of 12q is characterized by craniofacial dysmorphia, growth failure, occasional brain malformations, abnormalities of the extremities, skeletal and thoracic malformations, cardiovascular defects, anogenital abnormalities like cryptorchidism, psychomotor delay, and intellectual disability.

Case Presentation: We describe a female patient with typical manifestations of duplication 12q and epilepsy. She had a normal 46,XX karyotype.

Characterization of a Complex Chromosomal Rearrangement Involving a de novo Duplication of 9p and 9q and a Deletion of 9q.

Rearrangements of the distal region of 9p are important chromosome imbalances in human beings. Trisomy 9p is the fourth most frequent chromosome anomaly and is a clinically recognizable syndrome. Kleefstra syndrome, previously named 9q subtelomeric deletion syndrome, is either caused by a submicroscopic deletion in 9q34.

P450C17 (CYP17) deficiency in native Mexican patient with a novel CYP17A1 mutation.

Objective: To report a case of congenital adrenal hyperplasia due to CYP17 deficiency caused by a novel CYP17A1 mutation.

Methods: We describe the clinical, biochemical, genetic, and radiologic findings of a sporadic case of congenital adrenal hyperplasia due to CYP17 deficiency in a young patient.

Results: An 18-year-old woman presented with hypogonadism and progressive muscle weakness and had not yet undergone thelarche, adrenarche, and menarche.