title: Prenatal detection of de novo inversion of chromosome (2) (p13q11.2) and postnatal follow-up.
abstract: We report the first case of an apparent de novo pericentric inversion of chromosome 2 at the breakpoints p13q11.2 that was detected prenatally. Follow-up performed over 4 years showed phenotypic abnormalities including minor craniofacial dysmorphism, hypotonia, hearing loss, gustatory flushing syndrome, and severe developmental delays. The literature on chromosome 2 inversion is reviewed.
authors: Child Development Center/Department of Pediatrics, Georgetown University Medical Center, Washington, DC 20007-3935, USA.
authors: C
authors: C
authors: Kozma
authors: C
authors: C
authors: Subasinghe
authors: J
authors: J
authors: Meck
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D000328:Adult; D000649:Amniocentesis; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D007446:Chromosome Inversion; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D005483:Flushing / Q000235:genetics; D005500:Follow-Up Studies; D006319:Hearing Loss, Sensorineural / Q000235:genetics; D006801:Humans; D007223:Infant; D008423:Maternal Age; D009123:Muscle Hypotonia / Q000235:genetics; D011247:Pregnancy; D011252:Pregnancy Complications, Neoplastic; D018566:Pregnancy, High-Risk; D012886:Skull / Q000002:abnormalities*; D013964:Thyroid Neoplasms