Constitutional tetrasomy 18p.
Indian Pediatr
;
2006 Apr; 43(4): 357-60
Article
in English
| IMSEAR
| ID: sea-10169
ABSTRACT
We present here the first case of constitutional tetrasomy 18p from India. A 3 year old female with developmental delay and dysmorphic features revealed 47,XX,+mar karyotype. The small meta-centric marker chromosome was identified as i(18p) with m-FISH followed by m-BAND. Parents and a normal sibling of the proband revealed normal karyotype. There was history of mental retardation and dysmorphic features in four cases on paternal side; however, their karyotype was also normal.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Abnormalities, Multiple
/
Chromosomes, Human, Pair 18
/
Female
/
Humans
/
Developmental Disabilities
/
Child, Preschool
/
Chromosome Aberrations
/
Chromosome Banding
/
In Situ Hybridization, Fluorescence
/
Isochromosomes
Type of study:
Prognostic study
Language:
English
Journal:
Indian Pediatr
Year:
2006
Type:
Article
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