RESUMO
Report of a rare congenital abnormalities. We report a rare case of Pallister-Killian syndrome in a 33 weeks gestation infant. In addition to the characteristic phenotype, this patient had a cleft palate, diaphragmatic hernia and sacral appendage. These additional manifestations are not among the Pallister-Killian syndrome's features. The diagnosis was made in antenatal period by cytogenetic studies and showed mosaic 47, XY +I [12p]. Presence of diaphragmatic hernia makes this syndrome, prenatally letal, similar to the Fryns syndrome and then requires skin biopsy and fiboblast chromosome examination for cytogenetic diagnosis
RESUMO
In this study we examined the deletion of SMN and NAIP genes in 60 Tunisian families There were 35 patients with type I SMA. 18 with type II SMA, 6 with type Ill SMA and 1 with type IV SMA .The age of onset was before 6 months for type I, between 6 months and 2 years for type II. between 2 years and 17 years for type III and 30 years for type IV. Exon 7 of SMN 1 gene was homozygously deleted in 95% [57/60] of SMA patients. There was a higher frequency of homozygous absence of SMN I in type I and type 11 [100% and 94% respectively] than in type III [66,7%]. SMN 1 exon 8 was undetectable in 88%[53/60] of patients .The case type II patient with homozygous deletion of SMN I exon 7 and not exon 8 was tested for the presence of a hybrid SMN gene. This patient showed in the second PCR a SMN I exon 8 product by restriction site assay indicating that a gene conversion event had occurred. All parents' individuals retained one copy of their SMN I gene. Exon 5 of NAIP gene was homozygously deleted in 58% [35/60] of patients [77% in type I [27/35], 27, 7% in type 11 [5/18], 50% [3/6] in type III [Table 1]. No patient had a deletion in NAIP gene without a deletion in the SMN1 gene. Homozygous deletion of NAIP exon 5 was detected in 1 parent. Our results show that the incidence of NAIP deletion is higher in the more severe SMA cases