Prenatal Diagnosis of a Fetus with Unbalanced Translocation (4;13)(p16;q32) with Overlapping Features of Patau and Wolf-Hirschhorn Syndromes

Abstract

Wolf-Hirschhorn syndrome (WHS) and Patau syndrome are two of the most severe conditions resulting from chromosome abnormalities. WHS is caused by a deletion of 4p16, while Patau syndrome is caused by trisomy for some or all regions of chromosome 13. Though the etiologies of these syndromes differ, they share several features including pre- and postnatal growth retardation, microcephaly, cleft lip and palate, and cardiac anomalies. We present here a female fetus with deletion of 4p16 → pter and duplication of 13q32 → qter due to unbalanced segregation of t(4;13)(p16;q32) in the father. She displayed overlapping features of both of these syndromes on ultrasound. To the best of our knowledge, this is the first report of a fetus with both partial trisomy 13 and deletion of 4p16, the critical region for WHS.

Partial duplication of 13q31.3–q34 and deletion of 13q34 associated with diaphragmatic hernia as a sole malformation in a fetus

“…It is likely that one or more genes within this region may be associated with diaphragmatic hernia. However, we cannot exclude association of the diaphragmatic hernia in the fetus described by Tapper et al [2002] with the concomitant deletion of chromosome 4p16. The duplicated region includes several genes which may be potential candidates for development of diaphragmatic hernia.…”

Prenatal Sonographic Patterns in Six Cases of Wolf-Hirschhorn (4p–) Syndrome

“…4). A standard karyotype (G-banding) on amniotic cells was normal (46,XX). At 39 WG she gave birth to a severely growth-retarded female weighing 1,620 g, with a cranial circumference of 29.5 cm and a height of 39 cm.…”

“…Experimentally, WHS could be reproduced in mouse lines bearing radiation-induced deletions [45]. The association of deletion of 4p16 with partial trisomy 13 [46] or of mosaicism for del (4p)(p16) with trisomy 21 [9] may hinder the typical phenotype of these well-known chromosomal aberrations.…”

Congenital diaphragmatic hernia and a complex heart defect in association with Wolf–Hirschhorn syndrome

“…CDH is a severe birth defect characterized by defective formation of the diaphragm, lung hypoplasia and pulmonary hypertension. This has been previously described in 13 WHS patients [Lazjuk et al, 1980;Tachdjian et al, 1992;Kobori and Gregory, 1993;Bird et al, 1994;Howe et al, 1996;Del Campo and Delicado, 1997;Sergi et al, 1998;Tapper et al, 2002;van Dooren et al, 2004;Pober et al, 2005;Basgul et al, 2006;Casaccia et al, 2006;Battaglia et al, 2008]. Sporadic cases of complex heart defects in association with WHS have been reported [http://www.ncbi.nlm.nih.gov/bookshelf/ br.fcgi?book¼ gene&part¼whs].…”