Martine K.F.
We present a term male (Birth weight: 3860 gr) (AD 39 6/7 weeks PML) of a G8P7AB 1 of a 42-year-old Moroccan mother(consanguinity). The pre-birth ultrasound showed a one-sided ventriculomegaly and polyhydramnios. After birth we discovered an incredibly hypotonic male infant with trademark facial highlights incorporate a high, adjusted temple; an expansive nasal extension; a short nose; broadly separated eyes; low-set ears; adjusted cheeks; and a wide mouth with a slender upper lip a huge tongue and a high angled palate.Feeding troubles were available: GERD,
swallow fifficulties, clogging and miniature and microaspirations ( fever and respiratory contaminations). The hereditary analysis affirmed a Pallister-Killian disorder The SNP exhibit showed a pathogenic duplication of the whole arm of chromosome 12p. This fits with the finding of a Pallister-Killian disorder ( tetrasomy 12p) At the age of 2 months he created gigantic two-sided inguina-scrotal hernias.An ultrasound showed the presence of intestinal constructions noticeable in the canalis inguinalis and all the more caudally in the tunica vaginalis, coming to the extent intrascrotal on the left and to the extent the passage of the scrotum on the correct side. At 4 years old months a hernioraphy two-sided was finished. A short time later there was a recidive at the age of 11 months with a whereas the karyotype of lymphocytes is normal. The extra metacentric chromosome is an isochromosome for part of the short arm of chromosome 12.
