Identification of Proximal and Distal 22q11.2 Microduplications among Patients with Cleft Lip and/or Palate: A Novel Inherited Atypical 0.6 Mb Duplication

Abstract

Misalignments of low-copy repeats (LCRs) located in chromosome 22, particularly band 22q11.2, predispose to rearrangements. A variety of phenotypic features are associated with 22q11.2 microduplication syndrome which makes it challenging for the genetic counselors to recommend appropriate genetic assessment and counseling for the patients. In this study, multiplex ligation probe dependent amplification (MLPA) analysis was performed on 378 patients with cleft lip and/or palate to characterize rearrangements in patients suspected of 22q11.2 microduplication and microdeletion syndromes. Of 378 cases, 15 were diagnosed with a microdeletion with various sizes and 3 with duplications. For the first time in this study an atypical 0.6 Mb duplication is reported. Illustration of the phenotypes associated with the microduplications increases the knowledge of phenotypes reported in the literature.

22q11.2 Microduplication: An Enigmatic Genetic Disorder

“…[9][10][11] The other anomalies are quite varied and include ocular anomalies, microcephaly, cleft lip, thyroid hemiagenesis, and subtle dysmorphic facial features. 8,[12][13][14][15] In addition, an increasing number of recent studies have shown a higher incidence of autism spectrum and psychiatric disorders in those with this microduplication but, surprisingly, it has also been shown to provide some protection against schizophrenia. [16][17][18][19][20][21] There are reports of variable cognitive deficits, which are generally mild.…”

Prenatal phenotype of 22q11 micro-duplications: A systematic review and report on 12 new cases

“…Another child was reported postnatally by Sedghi et al 2015: the girl presented developmental delay and cleft palate. She inherited the duplication from her healthy mother.…”