A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.
Submicroscopic genomic copy number changes have been identified only recently as an important cause of mental retardation. We describe the detection of three interstitial, overlapping 17q21.31 microdeletions in a cohort of 1,200 mentally retarded individuals associated with a clearly recognizable clinical phenotype of mental retardation, hypotonia and a characteristic face. The deletions encompass the MAPT and CRHR1 genes and are associated with a common inversion polymorphism.
Koolen
David A
DA
Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands.
Vissers
Lisenka E L M
LE
Pfundt
Rolph
R
de Leeuw
Nicole
N
Knight
Samantha J L
SJ
Regan
Regina
R
Kooy
R Frank
RF
Reyniers
Edwin
E
Romano
Corrado
C
Fichera
Marco
M
Schinzel
Albert
A
Baumer
Alessandra
A
Anderlid
Britt-Marie
BM
Schoumans
Jacqueline
J
Knoers
Nine V
NV
van Kessel
Ad Geurts
AG
Sistermans
Erik A
EA
Veltman
Joris A
JA
Brunner
Han G
HG
de Vries
Bert B A
BB
D000293:Adolescent; D000328:Adult; D001921:Brain / Q000002:abnormalities / Q000000981:diagnostic imaging; D002675:Child, Preschool; D002872:Chromosome Deletion; D007446:Chromosome Inversion; D002886:Chromosomes, Human, Pair 17; D015331:Cohort Studies; D005145:Face / Q000473:pathology; D005260:Female; D018628:Gene Dosage; D005787:Gene Frequency; D006239:Haplotypes; D006801:Humans; D008607:Intellectual Disability / Q000453:epidemiology / Q000235:genetics / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D009123:Muscle Hypotonia / Q000235:genetics / Q000503:physiopathology; D020161:Physical Chromosome Mapping; D011110:Polymorphism, Genetic; D015995:Prevalence; D011859:Radiography; D018019:Receptors, Corticotropin-Releasing Hormone / Q000235:genetics; D013577:Syndrome; D016875:tau Proteins / Q000235:genetics; D000099052:CRF Receptor, Type 1
C054369:MAPT protein, human; D018019:Receptors, Corticotropin-Releasing Hormone; D016875:tau Proteins; D000099052:CRF Receptor, Type 1