A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH.
Although 22q11.2 deletion syndrome (22q11.2DS) is the most recurrent human microdeletion syndrome associated with a highly variable phenotype, little is known about the condition's true incidence and the phenotype at diagnosis. We performed a multicenter, retrospective analysis of postnatally diagnosed patients recruited by members of the Association des Cytogénéticiens de Langue Française (the French-Speaking Cytogeneticists Association). Clinical and cytogenetic data on 749 cases diagnosed between 1995 and 2013 were collected by 31 French cytogenetics laboratories. The most frequent reasons for referral of postnatally diagnosed cases were a congenital heart defect (CHD, 48.6%), facial dysmorphism (49.7%) and developmental delay (40.7%). Since 2007 (the year in which array comparative genomic hybridization (aCGH) was introduced for the routine screening of patients with intellectual disability), almost all cases have been diagnosed using FISH (96.1%). Only 15 cases (all with an atypical phenotype) were diagnosed with aCGH; the deletion size ranged from 745 to 2904 kb. The deletion was inherited in 15.0% of cases and was of maternal origin in 85.5% of the latter. This is the largest yet documented cohort of patients with 22q11.2DS (the most commonly diagnosed microdeletion) from the same population. French cytogenetics laboratories diagnosed at least 108 affected patients (including fetuses) per year from among a national population of ∼66 million. As observed for prenatal diagnoses, CHDs were the most frequently detected malformation in postnatal diagnoses. The most common CHD in postnatal diagnoses was an isolated septal defect.
Département de Génétique, CHU de Reims, Reims, France.
Céline
C
Poirsier
Service de Cytogénétique, Hôpital Poissy/Saint-Germain-en-Laye, Poissy, France.
Justine
J
Besseau-Ayasse
Service de Cytogénétique, CHU de Lyon, Lyon, France.
Caroline
C
Schluth-Bolard
CHU Bordeaux, Génétique Médicale, Bordeaux, France.
Jérôme
J
Toutain
Laboratoire de Cytogénétique, CHU de Marseille, Marseille, France.
Chantal
C
Missirian
CHU Nantes, Service de Génétique Médicale, Inserm UMR957, Faculté de Médecine, Nantes, France.
Cédric
C
Le Caignec
Laboratoire de Cytogénétique Pasteur-Cerba, Saint-Ouen l'Aumône, France.
Anne
A
Bazin
Service de Cytogénétique, CHU de Necker, Université Paris Descartes, Sorbonne Paris Cité, Paris, France.
Marie Christine
MC
de Blois
Service de Cytogénétique, CHU de Besançon, Besançon, France.
Paul
P
Kuentz
Service de Cytogénétique, Biolille, Lille, France.
Marie
M
Catty
Service de Cytogénétique, Hôpital Saint Vincent de Paul, Paris, France.
Agnès
A
Choiset
Laboratoire de Cytogénétique Postnatal, CHU Clemenceau, Caen, France.
Ghislaine
G
Plessis
Service de Cytogénétique et Biologie de la Reproduction, CHRU de Brest, Brest, France.
Audrey
A
Basinko
Service de Cytogénétique, CHU de Robert Debré, Paris, France.
Pascaline
P
Letard
Service de Cytogénétique, CHU de Strasbourg, Strasbourg, France.
Elisabeth
E
Flori
Service de Cytogénétique, CHU de Tours, Tours, France.
Mélanie
M
Jimenez
Service de Cytogénétique, CHU de Nancy, Nancy, France.
Mylène
M
Valduga
Département de Génétique, CHU de Reims, Reims, France.
Emilie
E
Landais
Laboratoire de Cytogénétique Cylab, La Rochelle, France.
Hakima
H
Lallaoui
Service de Cytogénétique, Hôpital de Saint-Denis, Saint-Denis de la Réunion, France.
François
F
Cartault
Service de Cytogénétique, CH de Chambery, Chambery, France.
James
J
Lespinasse
Service de Cytogénétique, CHU de Le Mans, Le Mans, France.
Dominique
D
Martin-Coignard
Service de Cytogénétique, CHU de Dijon, Dijon, France.
Patrick
P
Callier
Univ Clermont 1, UFR Médecine, Histologie Embryologie Cytogénétique, Clermont-Ferrand, France.|CHU-Estaing Clermont-Ferrand, Cytogénétique Médicale, Clermont-Ferrand, France.|EA 4677 ERTICA, Univ Clermont 1, UFR Médecine, Clermont-Ferrand, France.
Céline
C
Pebrel-Richard
Service de Cytogénétique, CHU de Trousseau, Paris, France.
Marie-France
MF
Portnoi
Departement de Genétique Medicale, Hopital de la Timone, CHU de Marseille, Marseille, France.
Tiffany
T
Busa
Service de Cytogénétique, CHU d'Amiens, Amiens, France.
Aline
A
Receveur
Service de Cytogénétique, CHU de Grenoble, Grenoble, France.
Florence
F
Amblard
Service de Cytogénétique, CHU de Limoges, Limoges, France.
Catherine
C
Yardin
Service de Génétique, CHU de Poitiers, Poitiers, France.
Radu
R
Harbuz
Service de Cytogénétique, CHU de Saint-Etienne, Saint-Etienne, France.
Fabienne
F
Prieur
Service de Cytogénétique, Etablissement Français du Sang de Normandie, Rouen, France.
Nathalie
N
Le Meur
Hôpital Jean Verdier, UF de Cytogénétique, CHU Paris, Paris, France.|Université Paris 13, Sorbonne Paris Cité, INSERM 1141, Paris, France.
Eva
E
Pipiras
Laboratoire de Cytogénétique Pasteur-Cerba, Saint-Ouen l'Aumône, France.|Association des Cytogénéticiens de Langue Française (French-Speaking Cytogeneticists Association), Paris, France.
Pascale
P
Kleinfinger
Service de Cytogénétique, Hôpital Poissy/Saint-Germain-en-Laye, Poissy, France.|Association des Cytogénéticiens de Langue Française (French-Speaking Cytogeneticists Association), Paris, France.|GIG, UVSQ, Versailles, Paris, France.
François
F
Vialard
Département de Génétique, CHU de Reims, Reims, France.|Association des Cytogénéticiens de Langue Française (French-Speaking Cytogeneticists Association), Paris, France.|EA3801, SFR-CAP Santé, Reims, France.
Martine
M
Doco-Fenzy
D058165:22q11 Deletion Syndrome / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D055028:Comparative Genomic Hybridization; D005260:Female; D005602:France; D005820:Genetic Testing / Q000379:methods / Q000706:statistics & numerical data*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D000072740:Paternal Inheritance