Perinatal findings in a patient with a novel large chromosome 19p deletion

Abstract

We describe the prenatal and postnatal course of an infant with a large 19p deletion. Cases such as ours will improve the knowledge of specific gene functions for every medical specialist. The goal is to allow for a more rapid diagnosis, accurate prognosis and to decrease the likelihood of complications.

Keywords: 19p deletion; hiatal hernia; hypotonia; intrauterine growth restriction; neonate; pyloric stenosis; small for gestational age.

Figure 1

Select prenatal ultrasound images representative of (A) right lateral ventriculomegaly (12.4 mm), and (B) strawberry‐shaped head

Figure 2

Photograph of the patient. Note the relative macrocephaly, downslanting palpebral fissures, low‐set ears, and mild micrognathia. The second finger overlaps the third finger, and the fifth overlaps the fourth finger. The nipples are wide‐spaced (left not visible)

Figure 3

Graphic representation of sites of 19p deletion in our patient, and previously reported patients by distance in megabases (Mb) from the centromere. The shaded area corresponds to the extent of the deletion seen in our patient. OMIM‐annotated genes, pertinent to the findings seen in our patient, and their positions relative to the deletion are shown in the bottom part of the graph. The width of the bar next to the gene corresponds with the size of the gene. Hg19 positions of the genes: CALR (19:12,938,599‐12,944,489), NFIX (19:12,995,511‐13,098,795), LYL1 (19:13,099,027‐13,103,159), MIR genes (19:13,836,286‐ 13,874,807), PRKACA (19:14,091,687‐14,117,746), PTGER1 (19:14,472,465‐14,475,361), GIPC1 (19:14,477,758‐14,496,148), EMR3 (19:14,600,174‐14,674,917), EMR2 (19:14,732,696‐14,778,540), NOTCH (19:15,159,632‐15,200,980), BRD4 (19:15,236,835‐15,332,542). IER2 (GenBank accession no. NM_004907)