An Unusual Case of Double Aneuploidy of Down Syndrome Associated with Triple x Syndrome: 48;xxx;21
Rwanda med. j. (Online)
; 69(4): 27-29, 2012.
Article
in English
| AIM
| ID: biblio-1269589
Responsible library:
CG1.1
ABSTRACT
Down syndrome is the most common chromosomal abnormality in humans with an estimated incidence of one case in 770 live births. However; the occurrence of double aneuploidy involving autosome and or sex chromosome is a very rare phenomenon in lives born and the majority of reported cases are presented in form of spontaneous abortions. Here; we are reporting a case of a Rwandan patient with combination of trisomy 21 and triple X syndrome. The proband was 8-month-old female with typical features of Down syndrome. In additional to Down syndrome features; the child presented with minor features of triple X syndrome characterized by hypotonia and seizures
Full text:
Available
Index:
AIM (Africa)
Main subject:
Congenital Abnormalities
/
Down Syndrome
/
Abortion
/
Infant
/
Aneuploidy
Type of study:
Risk factors
Language:
English
Journal:
Rwanda med. j. (Online)
Year:
2012
Type:
Article
Similar
MEDLINE
...
LILACS
LIS