Literature DB >> 1781959

A case with laryngeal atresia and partial trisomy 9 due to maternal 9;16 translocation.

M J Van den Boogaard1, J De Pater, R C Hennekam.   

Abstract

A newborn with a partial trisomy 9 and a partial trisomy 16q is described. The child died shortly after birth because of laryngeal atresia. The chromosome anomaly was the result of a 3:1 segregation of a maternal translocation t(9;16) (q22;q24). The pertinent literature on both partial trisomy 9 and partial trisomy 16q is reviewed. All cases with partial trisomy 9 were either de novo or the result of a maternal translocation, possibly indicating the influence of imprinting on this chromosomal abnormality. The relationship between the laryngeal atresia and other features in the patient and the chromosome anomalies remains uncertain.

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Year:  1991        PMID: 1781959

Source DB:  PubMed          Journal:  Genet Couns        ISSN: 1015-8146


  2 in total

1.  Case report: Antenatal diagnosis of congenital high airway obstruction syndrome - laryngeal atresia.

Authors:  Mukesh Kumar Garg
Journal:  Indian J Radiol Imaging       Date:  2008-11

2.  Prenatal diagnosis and pathology of laryngeal atresia in congenital high airway obstruction syndrome.

Authors:  Piya Chaemsaithong; Tharintorn Chansoon; Boonsri Chanrachakul; Suchin Worawichawong; Sansanee Wongwaisayawan; Patama Promsonthi
Journal:  Case Rep Radiol       Date:  2012-12-24
  2 in total

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