Open AccessTwo interstitial rearrangements (16q deletion and 17p duplication) in a child with MR/MCA
Author(s) -
SanchezJimeno Carolina,
BustamanteAragonés Ana,
InfantesBarbero Fernando,
Rodriguez De Alba Marta,
Ramos Carmen,
TrujilloTiebas María Jose,
LordaSánchez Isabel
Publication year - 2014
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.117
Subject(s) - gene duplication , proband , medicine , phenotype , pathology , genetics , mutation , gene , biology
Key Clinical Meassage Patients with rare deletions in 16q12 and a duplication of 17p, both interstitial and de novo. Only seven cases have been described with these deletions and none of them presented other chromosomal abnormalities. The proband showed a complex phenotype with features found in patients with dup17p11.2 syndrome, deletions in 16q12.