Mental retardation/shortness of stature/multiple minor anomalies syndrome associated with insertion of 3q material into 18p.
This is a case report of a 16-year-old Arab girl with mental subnormality, shortness of stature and multiple minor phenotypic anomalies. She is obese with normal secondary sexual characteristics, and has a speech deficit. Cytogenetic studies showed a 46,XX,dir ins (18;3)(p11.1;q13.2-->q25). The chromosome arrangement appeared balanced. Her condition is not a recognizable specific syndrome; thus, it remained unclear as to whether her condition is attributable to disruption of 3q or 18p or both. Further cytogenetic analysis by molecular biologists is required to solve this problem.
al-Attia
H M
HM
Department of Internal Medicine and Neonatology of Mafraq Hospital, Abu Dhabi, United Arab Emirates.
Sedaghatian
M R
MR
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D002871:Chromosome Banding; D002887:Chromosomes, Human, Pair 18; D002893:Chromosomes, Human, Pair 3; D004251:DNA Transposable Elements; D004392:Dwarfism / Q000235:genetics*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D009765:Obesity; D014178:Translocation, Genetic
D004251:DNA Transposable Elements