A newly recognised microdeletion syndrome involving 2p15p16.1: narrowing down the critical region by adding another patient detected by genome wide tiling path array comparative genomic hybridisation analysis.
de Leeuw
N
N
Pfundt
R
R
Koolen
D A
DA
Neefs
I
I
Scheltinga
I
I
Mieloo
H
H
Sistermans
E A
EA
Nillesen
W
W
Smeets
D F
DF
de Vries
B B A
BB
Knoers
N V A M
NV
D000328:Adult; D002872:Chromosome Deletion; D022202:Chromosomes, Artificial, Bacterial / Q000235:genetics; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D009693:Nucleic Acid Hybridization; D010641:Phenotype; D013577:Syndrome