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Genotype–phenotype correlation in four 15q24 deleted patients identified by array‐CGH
Author(s) -
Andrieux Joris,
Dubourg Christèle,
Rio Marlène,
AttieBitach Tania,
Delaby Elsa,
Mathieu Michèle,
Journel Hubert,
Copin Henri,
Blondeel Eléonore,
DocoFenzy Martine,
Landais Emilie,
Delobel Bruno,
Odent Sylvie,
ManouvrierHanu Sylvie,
HolderEspinasse Muriel
Publication year - 2009
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.33097
Subject(s) - haploinsufficiency , micropenis , palpebral fissure , hypertelorism , frontal bossing , biology , macrocephaly , genetics , phenotype , hypospadias , anatomy , gene
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. © 2009 Wiley‐Liss, Inc.