Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome.
Interstitial deletions of 7q11.23 cause Williams-Beuren syndrome, one of the best characterized microdeletion syndromes. The clinical phenotype associated with the reciprocal duplication however is not well defined, though speech delay is often mentioned. We present 14 new 7q11.23 patients with the reciprocal duplication of the Williams-Beuren syndrome critical region, nine familial and five de novo. These were identified by either array-based MLPA or by array-CGH/oligonucleotide analysis in a series of patients with idiopathic mental retardation with an estimated population frequency of 1:13,000-1:20,000. Variable speech delay is a constant finding in our patient group, confirming previous reports. Cognitive abilities range from normal to moderate mental retardation. The association with autism is present in five patients and in one father who also carries the duplication. There is an increased incidence of hypotonia and congenital anomalies: heart defects (PDA), diaphragmatic hernia, cryptorchidism and non-specific brain abnormalities on MRI. Specific dysmorphic features were noted in our patients, including a short philtrum, thin lips and straight eyebrows. Our patient collection demonstrates that the 7q11.23 microduplication not only causes language delay, but is also associated with congenital anomalies and a recognizable face.
Van der Aa
Nathalie
N
Department of Medical Genetics, University of Antwerp and Antwerp University Hospital, Universiteitsplein 1, 2610 Antwerp, Belgium. nathalie.van.der.aa@uza.be
Rooms
Liesbeth
L
Vandeweyer
Geert
G
van den Ende
Jenneke
J
Reyniers
Edwin
E
Fichera
Marco
M
Romano
Corrado
C
Delle Chiaie
Barbara
B
Mortier
Geert
G
Menten
Björn
B
Destrée
Anne
A
Maystadt
Isabelle
I
Männik
Katrin
K
Kurg
Ants
A
Reimand
Tiia
T
McMullan
Dom
D
Oley
Christine
C
Brueton
Louise
L
Bongers
Ernie M H F
EM
van Bon
Bregje W M
BW
Pfund
Rolph
R
Jacquemont
Sebastien
S
Ferrarini
Alessandra
A
Martinet
Danielle
D
Schrander-Stumpel
Connie
C
Stegmann
Alexander P A
AP
Frints
Suzanna G M
SG
de Vries
Bert B A
BB
Ceulemans
Berten
B
Kooy
R Frank
RF
D000015:Abnormalities, Multiple / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000235:genetics*; D002897:Chromosomes, Human, Pair 7; D005145:Face / Q000002:abnormalities; D005192:Family Health; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D010641:Phenotype; D013064:Speech Disorders / Q000235:genetics; D013577:Syndrome; D018980:Williams Syndrome / Q000235:genetics