Article
Genotype- phenotype correlation in trisomy X: a retrospective study of a selected group of 36 patients and review of literature.
Revista medico-chirurgicala a Societatii de Medici si Naturalisti din Iasi - 1 Jan 2000
Butnariu Lăcrămioara, Rusu Cristina, Caba Lavinia, Pânzaru Monica, Braha Elena, Grămescu Mihaela, Popescu Roxana, Bujoranu C, Gorduza E V
Abstract excerpt
UNLABELLED: Trisomy X (47,XXX) is a gonosomal aneuploidy characterized by the presence of an extra X chromosome in a female person. Usually the diagnosis is established made postnatally by chromosome analysis in patients with suggestive clinical signs. Clinical signs vary by age. In prepubertal patients have a growth retardation associated with uncharacteristic facial dysmorphism, mild mental retardation with...
Topics
- Adolescent
- Adult
- Child
- Child, Preschool
- Chromosomes, Human, X
- Face
- Female
- Genotype
- Humans
- Infant
- Intellectual Disability
- Karyotype
- Phenotype
- Retrospective Studies