Genotype-phenotype correlation in four 15q24 deleted patients identified by array-CGH.
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.
Andrieux
Joris
J
Laboratoire de Génétique Médicale, Hôpital Jeanne de Flandre, CHRU, Lille, France. j-andrieux@chru-lille.fr
Dubourg
Christèle
C
Rio
Marlène
M
Attie-Bitach
Tania
T
Delaby
Elsa
E
Mathieu
Michèle
M
Journel
Hubert
H
Copin
Henri
H
Blondeel
Eléonore
E
Doco-Fenzy
Martine
M
Landais
Emilie
E
Delobel
Bruno
B
Odent
Sylvie
S
Manouvrier-Hanu
Sylvie
S
Holder-Espinasse
Muriel
M
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