Hypospadias in ring X syndrome.

Ring X is a chromosomal anomaly mainly seen in females with turner syndrome and usually present in mosaic form with 45,X cells (45,X/46,X,r(X)) because of their mitotic instability. In males it is an extremely rare finding because large nullisomy for X chromosome material is likely not compatible with survival. Only two cases of male with ring chromosome X were previously reported.

De Novo Ring Chromosome 15: Molecular Cytogenetic and Clinical Characterization of First Case from Saudi Arabia.

Ring chromosome 15 is a rare chromosomal disorder, which usually occurs during early embryonic development via spontaneous errors and has variable presentation. To date, 89 cases of this condition have been reported. This case report describes a 5-year-old Saudi boy who was diagnosed as having de novo 46,XY,r(15).

Epilepsy, neuropsychiatric phenotypes, neuroimaging findings, and genotype-neurophenotype correlation in 22q11.2 deletion syndrome.

Objective: To describe the epilepsy, neuropsychiatric manifestations, and neuroimaging findings in a group of patients with 22q11.2 DS, and to correlate the size of the deleted genetic material with the severity of the phenotype.

Methods: We retrospectively analyzed the medical records of 28 patients (21 pediatric patients and 7 adults) with a genetically confirmed diagnosis of 22q11.

Rare cytogenetic abnormalities and their clinical relevance in pediatric acute leukemia of Saudi Arabian population.

Background: Childhood Acute Leukemia (AL) is characterized by recurrent genetic aberrations in 60% of AML cases and 90% of ALL cases. Insufficient data exists of rare cytogenetic abnormalities in AL. Therefore, we tested rare cytogenetic abnormalities occurring in childhood AL and its effect on clinical prognosis in patients diagnosed at our institution from 2010 to 2017.

Cytogenetic Profile and Gene Mutations of Childhood Acute Lymphoblastic Leukemia.

Background: Childhood acute lymphoblastic leukemia (ALL) is characterized by recurrent genetic aberrations. The identification of those abnormalities is clinically important because they are considered significant risk-stratifying markers.

Aims: There are insufficient data of cytogenetic profiles in Saudi Arabian patients with childhood ALL leukemia.