Revista británica de investigación Acceso abierto

Abstracto

Tetrasomy 12p disorder in Immense recidive two-sided inguinal hernias.

Martine K.F.

Immense recidive two-sided inguinal hernias in a tetrasomy 12p disorder.
We present an 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 prenatal ultrasound demonstrated an unilateral ventriculomegaly and polyhydramnios. After birth we found an extremely hypotonic male newborn with characteristic facial features include a high, rounded forehead; a broad nasal bridge; a short nose; widely spaced eyes; low-set ears; rounded cheeks; and a wide mouth with a thin upper lip a large tongue and a high arched palate. Feeding difficulties were present: GERD,

swallow difficulties, constipation and micro-and micro aspirations (fever and respiratory infections). The genetic diagnosis confirmed a Pallister-Killian syndrome The SNP array showed a pathogenic multiplication of the entire arm of chromosome 12p. This fits with the diagnosis of a Pallister-Killian syndrome (tetrasomy 12p) At the age of 2 months he developed huge bilateral inguina-scrotal hernias. An ultrasound showed the presence of intestinal structures visible in the canals inguinal is and more caudally in the tunica.

vaginalis, reaching as far as intrastromal on the left and as far as the entrance of the scrotum on

the right side. At the age of 4 months an herniorrhaphy bilateral was done. Afterwards 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.