A case with 46,XX,del(11)(q23.2) karyotype and poor vision with literature review.

Here we describe clinical and cytogenetic data on a female child whom had been referred to our laboratory suspected to have Turner syndrome since she had webbed neck. Cytogenetic analysis revealed that she had deletion at 11q23.2 to 11q terminal so her karyotype was ascertained as 46,XX,del(11)(q23.

Cytogenetic findings in mentally retarded Iranian patients.

We conducted a cytogenetic study on 865 individuals with idiopathic mental retardation (MR) who were admitted to the Cytogenetics Department of the Iran Blood Transfusion Organisation (IBTO) Research Centre, Tehran, Iran; these were performed on blood samples using conventional staining methods. Chromosome anomalies were identified in 205 of the patients (23.6%).

Concurrence of inv(7)(q11.2q32) and del(8)(p23.1) in a girl with congenital microcephaly, hypotonia, developmental delay, strabismus, hypernatremia, hypermagnesemia and deafness.

The clinical manifestations and cytogenetic details of a de novo partial deletion of the short arm of chromosome 8, del(8)(p23.1), and inversion of long arm chromosome 7, inv(7)(q11.2q32), are described.

Constitutional complex chromosomal rearrangements in a klinefelter patient: case report and review of literature.

Backgrounds: While XXY aneuploidy is the most common disorder of sex chromosomes in men, complex chromosomal rearrangements (CCRs) are rare in humans.

Case Description: Here we describe clinical and cytogenetic findings in a male referred to our cytogenetic laboratory by an infertility clinic. The patient's age was 35 at the time of referral.