Psychomotor development of children born after preimplantation genetic diagnosis and parental stress evaluation.

Background: The increasing number of children conceived following preimplantation genetic diagnosis (PGD) necessitates the evaluation of their motor and cognitive development. The primary study objective was to evaluate the physical, developmental, and neurological outcome of children born after PGD in Greece. In addition, the secondary study objective was to compare the stress levels regarding parental roles between parents of PGD children and those of naturally conceived children.

An unusual case of Cat-Eye syndrome phenotype and extragonadal mature teratoma: review of the literature.

BACKGROUND Cat-Eye syndrome (CES) with teratoma has not been previously reported. We present the clinical and molecular findings of a 9-month-old girl with features of CES and also a palpable midline neck mass proved to be an extragonadal mature teratoma, additionally characterized by array comparative genomic hybridization (aCGH). RESULTS High resolution oligonucleotide-based aCGH confirmed that the supernumerary marker chromosome (SMC) derived from chromosome 22, as was indicated by molecular cytogenetic analysis with fluorescence in situ hybridization (FISH).

Microdeletion and microduplication 17q21.31 plus an additional CNV, in patients with intellectual disability, identified by array-CGH.

The recognition of the 17q21.31 microdeletion and microduplication syndrome has been facilitated by high resolution oligonucleotide array comparative genome hybridization technology (aCGH). Molecular analysis of the 17q21.

Combined 22q11.1-q11.21 deletion with 15q11.2-q13.3 duplication identified by array-CGH in a 6 years old boy.

Background: Deletions of chromosome 22q11 are present in over 90% of cases of DiGeorge or Velo-Cardio-Facial syndrome (DGS/VCFS). 15q11-q13 duplication is another recognized syndrome due to rearrangements of several genes, belonging to the category of imprinted genes. The phenotype of this syndrome varies but has been clearly associated with developmental delay and autistic spectrum disorders.

Milroy's primary congenital lymphedema in a male infant and review of the literature.

Milroy's primary congenital lymphedema is a non-syndromic primary lymphedema caused mainly by autosomal dominant mutations in the FLT4 (VEGFR3) gene. Here, we report on a 6-month-old boy with congenital non-syndromic bilateral lymphedema at both feet and tibias, who underwent molecular investigation, consisted of PCR amplification and DHPLC analysis of exons 17-26 of the FLT4 gene. The clinical diagnosis of Milroy disease was confirmed by molecular analysis showing the c.