title: Malpuech syndrome: broadening the clinical spectrum and molecular analysis by array-CGH.
abstract: We report on a patient with mental and growth retardation, bilateral cleft lip and palate, hypertelorism, ptosis, hearing loss and mild epispadias, suggestive of Malpuech syndrome. High-resolution karyotype and microarray-CGH using an oligonucleotide array with 75Kb oligo's were normal, excluding Wolf-Hirschhorn syndrome. Long-term follow-up revealed psychiatric manifestations starting at young age.
authors.affiliation: Operative Unit of Medical Genetics, Hospital of Reggio Calabria Az. Ospedaliera Bianchi-Melacrino-Morelli, V Petrara Reggio Calabria, 89100 Reggio Calabria, RC, Italy. prioloma@libero.it
authors.forename: Manuela
authors.initials: M
authors.lastname: Priolo
authors.forename: Roberto
authors.initials: R
authors.lastname: Ciccone
authors.forename: Irene
authors.initials: I
authors.lastname: Bova
authors.forename: Giovanna
authors.initials: G
authors.lastname: Campolo
authors.forename: Carmelo
authors.initials: C
authors.lastname: Laganà
authors.forename: Orsetta
authors.initials: O
authors.lastname: Zuffardi
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000293:Adolescent; D002971:Cleft Lip / Q000235:genetics / Q000473:pathology; D002972:Cleft Palate / Q000235:genetics / Q000473:pathology; D004247:DNA / Q000235:genetics; D004392:Dwarfism / Q000235:genetics* / Q000473:pathology; D005500:Follow-Up Studies; D006801:Humans; D006972:Hypertelorism / Q000235:genetics / Q000473:pathology; D008607:Intellectual Disability / Q000235:genetics* / Q000473:pathology; D008297:Male; D009693:Nucleic Acid Hybridization / Q000379:methods*; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods*; D013577:Syndrome; D013997:Time Factors
chemical_list: D004247:DNA