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- partial monosomy
- comparative genomic hybridisation (CGH)
- congenital malformations
- chromosomal abnormalities
Chromosome alterations, including numerical and structural chromosome rearrangements, are implicated in abnormal fetal development and congenital malformations. At least 50% of all first trimester spontaneous abortions are cytogenetically abnormal and about 6% of all postnatal congenital malformations are related to visible cytogenetic alterations detected by conventional G banding.1, 2 These percentages will probably increase with the use of molecular cytogenetic methods such as fluorescence in situ hybridisation (FISH) and comparative genomic hybridisation (CGH) in prenatal and postnatal diagnosis,3 because they will allow the detection of chromosome abnormalities that are not identified at present. The recurrent association of particular chromosome aberrations with specific clinical features has defined many chromosomal syndromes. In order to facilitate the identification of genes involved in specific human malformations, Brewer et al4 have constructed a chromosome map of autosomal deletions (non-mosaic) associated with 47 different congenital malformations in 1753 patients. In this review, no congenital malformations were related to anomalies of 16p. So far, only the ATR-16 syndrome (α thalassaemia-retardation-16) associated with 16p13.3 deletion has been described.5–7 Interstitial deletions are relatively rare chromosomal anomalies that usually arise de novo. Here we describe multiple congenital malformations associated with a de novo interstitial chromosome deletion 16p11.2 confirmed by CGH. This is the first case reported with a phenotype-genotype correlation for this chromosome band.
An ultrasound examination at 20 weeks of gestation showed the presence of cardiac defects and unilateral multiple renal cysts. Conventional cytogenetic analyses carried out …