A 54 Mb 11qter duplication and 0.9 Mb 1q44 deletion in a child with laryngomalacia and agenesis of corpus callosum

Molecular Cytogenetics

Pankaj Jha²  Mithali Mukerji²  Ishwar Verma¹  Ratna Puri¹  Seema Thakur¹  Meena Lall¹ 

[1]Center of Medical Genetics, Sir Gangaram Hospital, Rajender Nagar, New Delhi 110024, India

[2]Genomics and Molecular Medicine, Institute of Genomics & Integrative Biology, Mall Road, New Delhi, India

关键词: laryngomalacia;    corpus callosum agenesis;    partial trisomy 11q;    monosomy1q44;   

Others  :  1152108
DOI  :  10.1186/1755-8166-4-19

 received in 2011-03-25, accepted in 2011-09-21,  发布年份 2011

【 摘 要 】

Background

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. 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.

Results

We 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.

Conclusion

Laryngomalacia 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.

【 授权许可】

   
2011 Lall et al; licensee BioMed Central Ltd.

【 图 表 】

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