Malpuech syndrome: broadening the clinical spectrum and molecular analysis by array-CGH.
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.
Priolo
Manuela
M
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
Ciccone
Roberto
R
Bova
Irene
I
Campolo
Giovanna
G
Laganà
Carmelo
C
Zuffardi
Orsetta
O
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
D004247:DNA