Article
Partial 9p monosomy in a girl with a tdic(9p23;13p11) translocation, minor anomalies, obesity, and mental retardation.
American journal of medical genetics - 8 Aug 1997
Serra A, Bova R, Bellanova G, Chindemi A, Zappata S, Brahe C
Abstract excerpt
We report on a case with a partial monosomy for the regions 9p23 --> pter and 13p11 --> pter as a result of a de novo translocation (9p23;13p11). The patient, a 16-year-old girl, has mental deficiency, obesity, and minor anomalies, including trigonocephaly, hypertelorism and a short, broad neck....
Topics
- Abnormalities, Multiple
- Adolescent
- Chromosome Aberrations
- Chromosome Banding
- Chromosome Breakage
- Chromosome Deletion
- Chromosomes, Human, Pair 11
- Chromosomes, Human, Pair 9
- DNA
- Female
- Humans
- Intellectual Disability
- Karyotyping
- Microsatellite Repeats
- Obesity
- Pedigree
- Phenotype
- Polymerase Chain Reaction