title: Genotype-phenotype correlation in four 15q24 deleted patients identified by array-CGH.
abstract: Microdeletion 15q24 is an emerging syndrome recently described, mainly due to increased use of array-CGH. Clinical features associate mild to moderate developmental delay, typical facial characteristics (high forehead and frontal hairline, broad eyebrows, downslanting palpebral features, long philtrum), hands (particularly proximal implanted thumbs) and genital anomalies (micropenis, hypospadias). We report here on four de novo cases having 2.5-6.1 Mb deletions involving 15q24: one 15q23q24.2 (Patient 1) and three 15q24.1q24.2 deletions (Patients 2-4). We correlate phenotype to genotype according to molecular boundaries of these deletions. Since bilateral iris coloboma and severe ano-rectal malformation were only present in Patient 1, we could link these anomalies to haploinsufficiency of 15q23 genes. Neither hypospadias nor micropenis were present in Patient 3 bearing the smallest deletion, therefore we could define 500 kb 15q24.1 region linked to these anomalies.
authors.affiliation: Laboratoire de Génétique Médicale, Hôpital Jeanne de Flandre, CHRU, Lille, France. j-andrieux@chru-lille.fr
authors.forename: Joris
authors.initials: J
authors.lastname: Andrieux
authors.forename: Christèle
authors.initials: C
authors.lastname: Dubourg
authors.forename: Marlène
authors.initials: M
authors.lastname: Rio
authors.forename: Tania
authors.initials: T
authors.lastname: Attie-Bitach
authors.forename: Elsa
authors.initials: E
authors.lastname: Delaby
authors.forename: Michèle
authors.initials: M
authors.lastname: Mathieu
authors.forename: Hubert
authors.initials: H
authors.lastname: Journel
authors.forename: Henri
authors.initials: H
authors.lastname: Copin
authors.forename: Eléonore
authors.initials: E
authors.lastname: Blondeel
authors.forename: Martine
authors.initials: M
authors.lastname: Doco-Fenzy
authors.forename: Emilie
authors.initials: E
authors.lastname: Landais
authors.forename: Bruno
authors.initials: B
authors.lastname: Delobel
authors.forename: Sylvie
authors.initials: S
authors.lastname: Odent
authors.forename: Sylvie
authors.initials: S
authors.lastname: Manouvrier-Hanu
authors.forename: Muriel
authors.initials: M
authors.lastname: Holder-Espinasse
mesh_terms: D002648:Child; D002675:Child, Preschool; D019457:Chromosome Breakage; D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D005260:Female; D005838:Genotype; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D011247:Pregnancy