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X-ray hands show evidence of osteopenia and uneven fingers.
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Figure 3: X-ray hands show evidence of osteopenia and uneven fingers.

Mentions: She had dysmorphic features (Figure 1a and 1b) with microcephaly and hypotonia. Her face was round with heavy cheeks and prominent forehead, upward slanting eyes, palpebral fissures, epicanthic folds, broad bulbous nose, large and low set ears, long and smooth philtrum, and thin tented upper lip. She had rocker bottom feet (Figure 2), uneven fingers and X-ray showed evidence of osteopenia.(Figure 3).

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

Lall M, Thakur S, Puri R, Verma I, Mukerji M, Jha P - Mol Cytogenet (2011)

Bottom Line: Fluorescence Insitu Hybridisation confirmed the duplication of 11qter and deletion of 1qter.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.

Affiliation: Center of Medical Genetics, Sir Gangaram Hospital, Rajender Nagar, New Delhi 110024, India. lallmeena@gmail.com.

ABSTRACT

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.

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