Genotype–phenotype correlation in four 15q24 deleted patients identified by array‐CGH
Year: 2009
Type: article
Study design: Case Report
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.
DOI: 10.1002/ajmg.a.33097
Institutions: Centre Hospitalier Universitaire de Lille, Hôpital Jeanne de Flandre, Centre Hospitalier Universitaire de Rennes, Hôpital Necker-Enfants Malades, Centre Hospitalier Universitaire Amiens-Picardie, Centre hospitalier Bretagne Atlantique, Université de Picardie Jules Verne, Centre Hospitalier Universitaire de Reims, Hôpital Maison Blanche, Groupe Hospitalier de l'Institut Catholique de Lille
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W1982145351