We describe a boy presenting with intellectual disability and dysmorphic features in whom a cryptic microdeletion in chromosome band 2q12.1 was identified with array CGH. The deletion results in a loss of the POU3F3 and MRPS9 genes. In this paper, we discuss the possible role of POU3F3 haploinsufficiency in relation to the boy's phenotype.

Paternal microdeletion of chromosome 15 at q11-q13 has been reported in 75% of Prader-Willi syndrome (PWS) patients in western countries. Diagnosis of PWS in Thailand is mainly based on clinical observation and, in some cases, confirmed by conventional cytogenetic analysis. Loss of a tiny segment in this region (microdeletion) has made it difficult to discriminate from the normal karyotype. An ...

Men with congenital absence or bilateral partial aplasia of vas deferens, or those with failed or surgically unreconstructable obstructions or azospermic men with testicular failure or genetic cause can now be treated by using sperm retrieval techniques in conjunction with in vitro fertilization/intra cytoplasmic sperm injection (ICSI/ IVF). These techniques are: Microsurgical epididymal sperm ...

conclusions albumin gradient method is the enrichment of y-bearing chromosome sperms. separation of spermatozoa by albumin gradient method, introduced by ericsson, is a suitable method for sex selection of male offspring. this technique is safe, because it neither requires toxic materials during sperm separation, nor involves embryo manipulation. objectives the study aimed to assess the separat...

BACKGROUND A child with autism and mild microcephaly was found to have a de novo 3.3 Mb microdeletion on chromosome 1p34.2p34.3. The hypothesis is tested that this microdeletion contains one or more genes that underlie the autism phenotype in this child and in other children with autism spectrum disorders. METHODS To search for submicroscopic chromosomal rearrangements in the child, array com...