Turner syndrome associated with Down syndrome: about a case / Síndrome Turner asociado a síndrome Down: a propósito de un caso
Rev. chil. obstet. ginecol. (En línea)
; 87(6): 419-424, dic. 2022. tab, ilus
Article
in Spanish
| LILACS
| ID: biblio-1423744
Responsible library:
CL126.2
RESUMEN
The coexistence of double aneuploidy of Down and Turner syndromes is rare; most cases have been due to double mitotic errors. The objective of the study was to report a case with monosomy of the X chromosome and trisomy of chromosome 21, in mosaic variety, highlighting the phenotypic effect that the presence of different chromosomal abnormalities can produce and compare with those reported in the literature. A 10-year-old Ecuadorian female, born to a multipregnant mother with 46 years at conception, is seen in consultation with a predominant clinical phenotype of Down syndrome, associated with menarche, presence of pubic and axillary villu, where a karyotype is verified 45 X[7]/47XX+ 21 [3]/46, X, der (X)( p11.1-> q11.1)[1]/46,XX [1]. The present case is a double Turner-Down aneuploidy, with predominantly X monosomy cell line, who shows important mental retardation and some signs of puberal development not usually in Turner syndrome. These features highlight the clinical importance of doing a karyotype in mental retardation cases and searching low mosaics of another aneuploidies in atypical cases. Its complex chromosomal formula and support with molecular cytogenetics allowed diagnostic confirmation and genetic counseling.
Full text:
Available
Collection:
International databases
Database:
LILACS
Main subject:
Turner Syndrome
/
Down Syndrome
Type of study:
Diagnostic study
/
Risk factors
Limits:
Child
/
Female
/
Humans
Language:
Spanish
Journal:
Rev. chil. obstet. ginecol. (En línea)
Journal subject:
Ginecologia
/
Obstetr¡cia
Year:
2022
Document type:
Article
Affiliation country:
Ecuador
/
Germany
Institution/Affiliation country:
Hospital Universitario Jena/DE
/
Hospital de Especialidades de las FF.AA No.1/EC
/
Hospital del Niño Dr. Francisco de Icaza Bustamante/EC
/
Ministerio de Salud Pública/EC
/
Universidad de Cuenca/EC