Prenatal Diagnosis and Postnatal Followup of Partial Trisomy 13q and Partial Monosomy 10p : A Case Report and Review of the Literature

Abstract EN

We report prenatal diagnosis and postnatal findings of a fetus with partial trisomy of 13q21.33-qter and partial monosomy of 10p15.3-pter.

The mother is a known carrier of a balanced translocation, t(10;13)(p15.3;q21.33), ascertained by history of one miscarriage and two neonatal deaths.

The fetal karyotyping on cultured amniocytes showed 46,XX,der(10)t(10;13)(p15.3;q21.33).

Oligonucleotide array comparative genomic hybridization (aCGH) defined a 2.339 Mb distal deletion at 10p15.3 (chr10:126,161–2,465,089) and a 46.344 Mb duplication of 13q21.33–q34 (chr13:67,779,708–114,123,540).

Ultrasound examination showed polydactyly and polyhydramnios in the fetus.

After genetic counseling, the mother decided to continue the pregnancy, and follow-up ultrasound monitoring found no further abnormalities.

A girl was delivered at 37+6 weeks of gestation and was transferred to the intensive care unit for intermittent convulsions within 26 hours.

She was diagnosed with neonatal hypoxic ischemic encephalopathy and experienced several episodes of apnea in the following month.

Her birth weight was 2900 g (10–25th centile) and at five months was 5500 g (5–10th centile).

She had dysmorphic features and mild psychomotor retardation.

A review of the literature found three previously reported cases with similar compound 10p/13q abnormalities.

We discuss a two-step approach to assess fetal viability and phenotype using genomic information from partial trisomy and monosomy.