Comparative genomic hybridisation shows a partial de novo deletion 16p11.2 in a neonate with multiple congenital malformations

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Abstract
An ultrasound examination at 20 weeks of gestation showed the presence of cardiac defects and unilateral multiple renal cysts. Conventional cytogenetic analyses carried out on amniotic fluid samples showed a normal karyotype. The presence of trisomies 13, 18, and 21 was excluded using FISH on uncultured amniocytes. The couple decided to continue the pregnancy. The boy was born after an uncomplicated 40 week gestation by emergency caesarean section. He showed severe intrauterine growth retardation (weight 2080 g, <5th centile) and multiple congenital malformations were observed on clinical examination (table 1). He was admitted to the intensive care unit, but developed cardiac decompensation and died at the age of 5 months.

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