Abstract
BackgroundPartial Trisomy 11q syndrome (or Duplication 11q) has defined clinical features and is documented as a rare syndrome by National Organization of Rare Disorders (NORD). Deletion 1q44 (or Monosomy 1q44) is a well-defined syndrome, but there is controversy about the genes lying in 1q44 region, responsible for agenesis of the corpus callosum. We report a female child with the rare Partial Trisomy 11q syndrome and Deletion 1q44 syndrome. The genomic imbalance in the proband was used for molecular characterization of the critical genes in 1q44 region for agenesis of corpus callosum. Some genes in 11q14q25 may be responsible for laryngomalacia.ResultsWe report a female child with dysmorphic features, microcephaly, growth retardation, seizures, acyanotic heart disease, and hand and foot deformities. She had agenesis of corpus callosum, laryngomalacia, anterior ectopic anus, esophageal reflux and respiratory distress. Chromosome analysis revealed a derivative chromosome 1. Her karyotype was 46,XX,der(1)t(1;11)(q44;q14)pat. The mother had a normal karyotype and the karyotype of the father was 46,XY,t(1;11)(q44;q14). SNP array analysis showed that the proband had a 54 Mb duplication of 11q14q25 and a 0.9 Mb deletion of the submicroscopic subtelomeric 1q44 region. Fluorescence Insitu Hybridisation confirmed the duplication of 11qter and deletion of 1qter.ConclusionLaryngomalacia or obstruction of the upper airway is the outcome of increased dosage of some genes due to Partial Trisomy 11q Syndrome. In association with other phenotypic features, agenesis of corpus callosum appears to be a landmark phenotype for Deletion 1q44 syndrome, the critical genes lying proximal to SMYD3 in 1q44 region.
Highlights
Partial Trisomy 11q syndrome has defined clinical features and is documented as a rare syndrome by National Organization of Rare Disorders (NORD)
Partial Trisomy 11q syndrome is a rare disorder with defined clinical features and has been documented in the list of rare syndromes by National Organization of Rare Disorders (NORD), USA http://www.raredisease. org[1]
Dominique et al (1997) [3] compared the clinical features of patients with pure trisomy 11qter and those with additional chromosomal anomalies and revealed a set of common clinical features in this syndrome. These clinical features have been documented by NORD [1]: mental retardation, pre- and postnatal growth retardation, hypotonia, distinct pattern of facial features, congenital heart defects and limb malformations
Summary
Partial Trisomy 11q syndrome (or Duplication 11q) has defined clinical features and is documented as a rare syndrome by National Organization of Rare Disorders (NORD). Deletion 1q44 (or Monosomy 1q44) is a well-defined syndrome, but there is controversy about the genes lying in 1q44 region, responsible for agenesis of the corpus callosum. Partial Trisomy 11q syndrome is a rare disorder with defined clinical features and has been documented in the list of rare syndromes by National Organization of Rare Disorders (NORD), USA http://www.raredisease. There is controversy about the genes in 1q44 responsible for agenesis of the corpus callosum [8,9,10,11,12,13,14]
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