A case report of familial 4q13.3 microdeletion in three individuals with syndromic intellectual disability.

Background: Interstitial 4q deletions are rare chromosomal alterations. Most of the previously reported deletions involving the 4q13.3 region are large chromosomal alterations with a common loss of band 4q21 resulting in marked growth restriction, severe intellectual disability, and absent or severely delayed speech.

Acute Pre-B Lymphoblastic Leukemia and Congenital Anomalies in a Child with a 22q11.1q11.22 Duplication.

Microdeletions and microduplications are recurrent in the q11.2 region of chromosome 22. The 22q11.

A de novo 1q22q23.1 Interstitial Microdeletion in a Girl with Intellectual Disability and Multiple Congenital Anomalies Including Congenital Heart Defect.

Many studies have shown that molecular karyotyping is an effective diagnostic tool in individuals with developmental delay/intellectual disability. We report on a de novo interstitial 1q22q23.1 microdeletion, 1.

Opposite chromosome constitutions due to a familial translocation t(1;21)(q43;q22) in 2 cousins with development delay and congenital anomalies: A case report.

Rationale: Chromosomal rearrangements are the major cause of multiple congenital abnormalities and intellectual disability.

Patient Concerns And Diagnosis: We report 2 first cousins with unbalanced chromosomal aberrations of chromosomes 1 and 21, resulting from balanced familial translocation. Chromosome microarray analysis revealed 8.