Chromosomal Abnormalities in Syndromic Orofacial Clefts: Report of Three Children

Abstract

This case series of three children reports clinical features and chromosomal abnormalities seen in a craniofacial clinic. All presented with orofacial cleft, developmental or intellectual disability, and dysmorphism. Emanuel syndrome or supernumerary der (22)t(11; 22), the prototype of complex small supernumerary marker disorders, was seen in one child. Duplication 4q27q35.2 with concomitant deletion 21q22.2q22.3 and duplication 12p13.33p13.32 with concomitant deletion 18q22.3q23 seen in the remaining two children are not reported in literature. Maternal balanced translocation was established in both of these children.

Figure 1

Proband 1 with Emanuel syndrome: (a) phenotype with unilateral left ptosis, microretrognathia, (b) T2 weighted magnetic resonance imaging of brain (sagittal) showing hypoplastic body of corpus callosum (arrow), (c) karyotype and ideogram showing marker chromosome, and (d) karyotype and ideogram of mother showing t(11; 22)(q24; q12).

Figure 2

Proband 2: (a) phenotype showing prominent nose, right cleft lip, and abnormal ear, (b) karyotype and ideogram showing derivative chromosome 21, (c) karyotype and ideogram of mother of proband showing t(4; 21)(q27; q22), (d) snapshots of microarray plots (Illumina HumanCytoSNP-12, CA) and coding genes (http://genome.ucsc.edu/) of duplication 4q27q35.2, and (e) snapshots of microarray plots (Illumina HumanCytoSNP-12, CA) and coding genes (http://genome.ucsc.edu/) of deletion 21q22.2q22.3.

Figure 3

Proband 3: (a) phenotype showing low set ears and everted lower lip, (b) T2 weighted magnetic resonance imaging of brain showing asymmetric lateral ventricle (arrow), (c) snapshots of microarray plots (Illumina HumanCytoSNP-12, CA) and coding genes (http://genome.ucsc.edu/) of duplication 12p13.33p13.32, and (d) snapshots of microarray plots (Illumina HumanCytoSNP-12, CA) and coding genes (http://genome.ucsc.edu/) of deletion 18q22.3q23.