Angelman syndrome in a daughter with del(15) (q11q13) associated with brachycephaly, hearing loss, enlarged foramen magnum, and ataxia in the mother.

Williams, C A

Angelman syndrome in a daughter with del(15) (q11q13) associated with brachycephaly, hearing loss, enlarged foramen magnum, and ataxia in the mother. [electronic resource] - American journal of medical genetics Mar 1989 - 333-8 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

0148-7299

10.1002/ajmg.1320320312 doi


Adult
Ataxia--genetics
Blotting, Southern
Child, Preschool
Chromosome Banding
Chromosome Deletion
Chromosomes, Human, Pair 15
DNA--genetics
Female
Foramen Magnum--pathology
Head--abnormalities
Hearing Loss, Sensorineural--genetics
Humans
Karyotyping
Pedigree
Speech Disorders--genetics
Syndrome