Mosaic tetrasomy 15q25→qter in a newborn infant with multiple anomalies

Abstract

We describe a premature boy with metopic craniosynostosis, facial anomalies, atrialseptal defect, hydronephrosis and flexion contractures of lower limbs, and mosaic tetrasomy 15q25→qter. The extra chromosome material was present in the form of an acentric marker. A number of clinical manifestations observed in this child were also found in 3 previously reported patients who were trisomic for the same part of chromosome 15 and in 2 patients who were tetrasomic for a larger segment of 15q. © 1996 Wiley‐Liss, Inc.

Clinical, cytogenetic, and molecular analyses of prenatally diagnosed mosaic tetrasomy for distal chromosome 15q and review of the literature

“…Spiegel et al (2003) first described prenatal diagnosis of tetrasomy for chromosome 15q24-qter at 22 weeks' gestation in a 30-year-old mother following abnormal sonographic findings of nuchal edema, a complex cardiac defect with malformation of atrial septal defect and abnormal return of the inferior vena cava, and bilateral hydronephrosis. Bilateral hydronephrosis was previously observed by Van den Enden et al (1996) at 29 weeks' gestation in a case with tetrasomy for chromosome 15q25-qter. Other associated cardiac defects include a large atrial septal defect and an open ductus arteriosus with a considerable left-right shunt (Van den Enden et al, 1996), dysplastic mitral and aortic valves, and a ventricular septal defect, coarctation of the aorta and aortic arch hypoplasia (Huang et al, 1998).…”

“…Bilateral hydronephrosis was previously observed by Van den Enden et al (1996) at 29 weeks' gestation in a case with tetrasomy for chromosome 15q25-qter. Other associated cardiac defects include a large atrial septal defect and an open ductus arteriosus with a considerable left-right shunt (Van den Enden et al, 1996), dysplastic mitral and aortic valves, and a ventricular septal defect, coarctation of the aorta and aortic arch hypoplasia (Huang et al, 1998). Our case was associated with tetrasomy for chromosome 15q25.3-qter but presented only gastric dilation on prenatal ultrasound.…”

“…Tetrasomy for distal chromosome 15q due to an inverted duplication of distal 15q has been described previously in nine cases (Blennow et al, 1994;Van den Enden et al, 1996;Depinet et al, 1997;Huang et al, 1998;Rowe et al, 2000;Spiegel et al, 2003). Reported breakpoints were at 15q23, 15q24, 15q25, and 15q25.3, resulting in different sized tetrasomies but a consistent *Correspondence to: Chih-Ping Chen, Department of Obstetrics and Gynecology, Mackay Memorial Hospital, 92, Section 2, Chung-Shan North Road, Taipei, Taiwan, Republic of China.…”

Characterization of an analphoid supernumerary marker chromosome derived from 15q25→qter using high‐resolution CGH and multiplex FISH analyses

“…The extra inverted duplicated distal 15q chromosome has been previously reported in eight cases with clinical data (5,6,17,14,(18)(19)(20) ( Table 1): six liveborn infants, of whom two (cases 3 and 4) died in the neonatal period and two were fetuses (cases 7 and 8). Data from previous cases and the present one (case 9) suggest that distal 15q tetraploidy has a distinctive phenotype characterized by prominent/wide nasal bridge, microretrognathia, cranial asymmetry/ craniosynostosis, long fingers and toes, hearing loss, developmental/mental retardation, joint defects, and dysmorphic/low-set ears, as reported by Blennow et al (1994), Van (Table 1) suggest that significant developmental genes are located within the region of tetrasomy of 15q23!qter.…”

Tetrasomy 15q26: a distinct syndrome or Shprintzen-Goldberg syndrome phenocopy?

“…There have been at least 13 previously reported cases of tetrasomy 15q in the form of a marker chromosome. 10,11,15,[20][21][22][23][24][25][26][27][28][29] However, in only 10 of the 13 are specific clinical data available ( Table 1) with 9 of the 10 reported as mosaic tetrasomy 15q. Nonetheless, the craniofacial gestalt observed in all our cases is also present in eight of eight cases tetrasomic for 15q25 where clinical images are available ( Table 1).…”