Subtelomeric trisomy 21q: a new benign chromosomal variant.
The diagnosis of a subtelomeric rearrangement has immediate impact on counseling, particularly in the case of familial rearrangements. However, the existence of subtelomeric imbalances with absent phenotypic effects may hamper genetic counseling, particularly when the rearrangement has not been previously described. We report on a new subtelomeric polymorphism, consisting of a familial subtelomeric rearrangement of chromosome 19 resulting in distal trisomy for 21q, detected in a child with Angelman Syndrome (AS) due to an UBE3A mutation. This report shows that new, previously unknown, benign subtelomeric variants may complicate the correct clinical diagnosis.
Bonaglia
Maria Clara
MC
IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy. clara.bonaglia@bp.lnf.it
Marelli
Susan
S
Gottardi
Giulietta
G
Zucca
Claudio
C
Pramparo
Tiziano
T
Giorda
Roberto
R
Grasso
Rita
R
Borgatti
Renato
R
Zuffardi
Orsetta
O
D017204:Angelman Syndrome / Q000235:genetics; D002675:Child, Preschool; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics; D004314:Down Syndrome / Q000235:genetics*; D005260:Female; D014644:Genetic Variation; D006801:Humans; D016615:Telomere / Q000235:genetics*; D014178:Translocation, Genetic; D044767:Ubiquitin-Protein Ligases / Q000235:genetics
C471639:UBE3A protein, human; D044767:Ubiquitin-Protein Ligases