A Girl with 15q Overgrowth Syndrome and dup(15)(q24q26.3) that Included Telomeric Sequences / 대한진단검사의학회지
The Korean Journal of Laboratory Medicine
; : 318-324, 2010.
Article
in En
| WPRIM
| ID: wpr-58468
Responsible library:
WPRO
ABSTRACT
Distal 15q trisomy or tetrasomy is associated with a characteristic phenotype that includes mild to moderate intellectual disability, abnormal behavior, speech impairment, overgrowth, hyperlaxity, long face, prominent nose, puffy cheeks, pointed chin, small ears, and hand anomalies (mainly arachno- and camptodactyly). We present the case of a 13-yr-old girl with the main clinical features of 15q overgrowth syndrome and a 46,XX,dup(15)(q24q26.3)[117]/46,XX[3].ish dup(15)(q24q26.3) (SNPRN+,PML+,subtel++,tel++) de novo karyotype. The findings in this case are consistent with those in the previous distal 15q trisomy cases that presented with overgrowth and mental retardation. Further, the rearranged chromosome had a double set of directly oriented telomeric and subtelomeric sequences.
Key words
Full text:
1
Index:
WPRIM
Main subject:
Syndrome
/
Chromosomes, Human, Pair 15
/
Chromosome Aberrations
/
Telomere
/
In Situ Hybridization, Fluorescence
/
Growth Disorders
/
Intellectual Disability
Limits:
Adolescent
/
Female
/
Humans
Language:
En
Journal:
The Korean Journal of Laboratory Medicine
Year:
2010
Type:
Article