A fetus with 19q13.11 microdeletion presenting with intrauterine growth restriction and multiple cystic kidneya

Constitutional deletions of chromosome 19q were rarely reported in the literature. The array-comparative genome hybridization (CGH) helps to identify four children with 19q13 microdeletion and the microdeletion of 19q13.11 is a recent emerging syndrome. We report one fetus with 19q12q13.12 deletion diagnosed prenatally and compare with five cases in the literature.The 29 year-old woman was at the 27The karyotype of the fetus was considered as normal male. The BAC array CGH identified one deletion at chromosome 19q12q13.12. The oligonucleotide array CGH further characterized the size of the breakpoint (chr19:35,116, 199-42,994,905). After counselling, the pregnancy was terminated at the 28Although a complete genotype-phenotype may not be established in these patients with 19q13 deletions, they shared some unique phenotypes and facial dysmorphisms. The clinician should keep in mind when anomalies are detected prenatally, array CGH may help to identify the etiology, which is critical for counselling.