The intrafamilial variability of the 22q11.2 microduplication encompasses a spectrum from minor cognitive deficits to severe congenital anomalies.
de La Rochebrochard
Céline
C
Joly-Hélas
Géraldine
G
Goldenberg
Alice
A
Durand
Isabelle
I
Laquerrière
Annie
A
Ickowicz
Valentine
V
Saugier-Veber
Pascale
P
Eurin
Danièle
D
Moirot
Hélène
H
Diguet
Alain
A
de Kergal
Fabrice
F
Tiercin
Coralie
C
Mace
Bertrand
B
Marpeau
Loïc
L
Frebourg
Thierry
T
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D000782:Aneuploidy; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D003072:Cognition Disorders / Q000235:genetics*; D004062:DiGeorge Syndrome / Q000235:genetics; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D011247:Pregnancy