Mosaic double aneuploidy: Down syndrome and XYY.
Indian J Hum Genet
;
2013 July-Sept ;19 (3): 346-348
Article
in English
| IMSEAR
| ID: sea-156589
ABSTRACT
Chromosomal abnormalities are seen in nearly 1% of live born infants. We report a 5‑year‑old boy with the clinical features of Down syndrome, which is the most common human aneuploidy. Cytogenetic analysis showed a mosaicism for a double aneuploidy, Down syndrome and XYY. The karyotype was 47, XY,+21[19]/48, XYY,+21[6]. ish XYY (DXZ1 × 1, DYZ1 × 2). Mosaic double aneuploidies are very rare and features of only one of the aneuploidies may predominate in childhood. Cytogenetic analysis is recommended even if the typical features of a recognized aneuploidy are present so that any associated abnormality may be detected. This will enable early intervention to provide the adequate supportive care and management.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Sex Chromosome Aberrations
/
Disorders of Sex Development
/
Humans
/
Male
/
Child, Preschool
/
Down Syndrome
/
Chromosomes, Human, X
/
Chromosomes, Human, Y
/
Sex Chromosome Disorders of Sex Development
/
Aneuploidy
Language:
English
Journal:
Indian J Hum Genet
Year:
2013
Type:
Article
Similar
MEDLINE
...
LILACS
LIS