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De novo pericentric inversion of chromosome 9 in congenital anomaly.

Jeong SY, Kim BY, Yu JE - Yonsei Med. J. (2010)

Bottom Line: The pericentric inversion of chromosome 9 is one of the most common structural balanced chromosomal variations and has been found in both normal populations and patients with various abnormal phenotypes and diseases.The most common type of structural abnormality was inv(9)(p11q13), found in eight patients.Since our results indicate that the incidence of inv(9)(p11q13) in patients with congenital anomalies was not significantly different from the normal population, inv(9)(p11q13) does not appear to be pathogenic with regard to the congenital anomalies.

View Article: PubMed Central - PubMed

Affiliation: Departments of Medical Genetics, School of Medicine, Ajou University, Suwon, Korea.

ABSTRACT

Purpose: The pericentric inversion of chromosome 9 is one of the most common structural balanced chromosomal variations and has been found in both normal populations and patients with various abnormal phenotypes and diseases. The aim of this study was to re-evaluate the clinical impact of inv(9)(p11q13).

Materials and methods: We studied the karyotypes of 431 neonates with congenital anomalies at the Pediatric Clinic in Ajou University Hospital between 2004 and 2008 and retrospectively reviewed their clinical data.

Results: Chromosomal aberrations were detected in 60 patients (13.9%). The most common type of structural abnormality was inv(9)(p11q13), found in eight patients. Clinical investigation revealed that all eight cases with inv(9)(p11q13) had various congenital anomalies including: polydactyly, club foot, microtia, deafness, asymmetric face, giant Meckel's diverticulum, duodenal diaphragm, small bowel malrotation, pulmonary stenosis, cardiomyopathy, arrhythmia, and intrauterine growth restriction. The cytogenetic analysis of parents showed that all of the cases were de novo heterozygous inv(9)(p11q13).

Conclusion: Since our results indicate that the incidence of inv(9)(p11q13) in patients with congenital anomalies was not significantly different from the normal population, inv(9)(p11q13) does not appear to be pathogenic with regard to the congenital anomalies. Some other, to date unknown, causes of the anomalies remain to be identified.

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Clinical and radiological features of patients with de novo inv(9)(p11q13). (A) Thumb duplication is seen on standard X-ray of one female newborn. (B) Barium filled the large cystic mass of the distal part of the ileum (arrow). Pathology specimen demonstrates the size of the giant Meckel's diverticulum. (C) Dilated duodenal bulb (arrowhead) and the obstructed lower portion of the duodenum (asterisk) is seen on the upper gastrointestinal study of one male newborn with a duodenal diaphragm and small bowel malrotation. (D) Cardiomegaly is seen on the standard chest X-ray and a prominent club foot is also present in one female newborn with congenital arrhythmia. (E) External auditory canal of the right ear is absent on three-dimensional reconstruction images of the computed tomography in one female newborn with unilateral microtia.
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Figure 2: Clinical and radiological features of patients with de novo inv(9)(p11q13). (A) Thumb duplication is seen on standard X-ray of one female newborn. (B) Barium filled the large cystic mass of the distal part of the ileum (arrow). Pathology specimen demonstrates the size of the giant Meckel's diverticulum. (C) Dilated duodenal bulb (arrowhead) and the obstructed lower portion of the duodenum (asterisk) is seen on the upper gastrointestinal study of one male newborn with a duodenal diaphragm and small bowel malrotation. (D) Cardiomegaly is seen on the standard chest X-ray and a prominent club foot is also present in one female newborn with congenital arrhythmia. (E) External auditory canal of the right ear is absent on three-dimensional reconstruction images of the computed tomography in one female newborn with unilateral microtia.

Mentions: The patients with inv(9)(p11q13) had various dysmorphic features and/or congenital anomalies including: polydactyly, club foot, microtia, deafness, asymmetric face, giant Meckel's diverticulum, duodenal diaphragm, small bowel malrotation, pulmonary stenosis, atrial septal defect, tricuspid regurgitation, cardiomyopathy, arrhythmia, intrauterine growth restriction, and oligohydramnios (Table 3) (Fig. 2). The patient with polydactyly had a thumb duplication on standard X-ray (Fig. 2A). In the patient with a giant Meckel's diverticulum, barium filled the large cystic mass at the distal part of the ileum (Fig. 2B). In the patient with the duodenal diaphragm and small bowel malrotation, a dilated duodenal bulb and obstructed lower portion of the duodenum was observed on an upper gastrointestinal study (Fig. 2C). In the patient with hypertrophic cardiomyopathy, atrial septal defect, arrhythmia, club foot, and oligohydramnios, and cardiomegaly were identified (Fig. 2D). In the patient with unilateral microtia and an asymmetric face, the external auditory canal of the right ear was absent on three-dimensional reconstruction images of the computed tomography (Fig. 2E). Brain stem-evoked audiometry responses were tested in all patients. One patient (case 7) was found to have severe hearing difficulty in both ears, and in the patient with microtia, the affected ear was non-responsive to stimuli. We followed these patients for 6 to 32 months and performed developmental assessments with the Bayley and social maturity scales. All patients showed normal progress in motor, language, and social development.


De novo pericentric inversion of chromosome 9 in congenital anomaly.

Jeong SY, Kim BY, Yu JE - Yonsei Med. J. (2010)

Clinical and radiological features of patients with de novo inv(9)(p11q13). (A) Thumb duplication is seen on standard X-ray of one female newborn. (B) Barium filled the large cystic mass of the distal part of the ileum (arrow). Pathology specimen demonstrates the size of the giant Meckel's diverticulum. (C) Dilated duodenal bulb (arrowhead) and the obstructed lower portion of the duodenum (asterisk) is seen on the upper gastrointestinal study of one male newborn with a duodenal diaphragm and small bowel malrotation. (D) Cardiomegaly is seen on the standard chest X-ray and a prominent club foot is also present in one female newborn with congenital arrhythmia. (E) External auditory canal of the right ear is absent on three-dimensional reconstruction images of the computed tomography in one female newborn with unilateral microtia.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC2908878&req=5

Figure 2: Clinical and radiological features of patients with de novo inv(9)(p11q13). (A) Thumb duplication is seen on standard X-ray of one female newborn. (B) Barium filled the large cystic mass of the distal part of the ileum (arrow). Pathology specimen demonstrates the size of the giant Meckel's diverticulum. (C) Dilated duodenal bulb (arrowhead) and the obstructed lower portion of the duodenum (asterisk) is seen on the upper gastrointestinal study of one male newborn with a duodenal diaphragm and small bowel malrotation. (D) Cardiomegaly is seen on the standard chest X-ray and a prominent club foot is also present in one female newborn with congenital arrhythmia. (E) External auditory canal of the right ear is absent on three-dimensional reconstruction images of the computed tomography in one female newborn with unilateral microtia.
Mentions: The patients with inv(9)(p11q13) had various dysmorphic features and/or congenital anomalies including: polydactyly, club foot, microtia, deafness, asymmetric face, giant Meckel's diverticulum, duodenal diaphragm, small bowel malrotation, pulmonary stenosis, atrial septal defect, tricuspid regurgitation, cardiomyopathy, arrhythmia, intrauterine growth restriction, and oligohydramnios (Table 3) (Fig. 2). The patient with polydactyly had a thumb duplication on standard X-ray (Fig. 2A). In the patient with a giant Meckel's diverticulum, barium filled the large cystic mass at the distal part of the ileum (Fig. 2B). In the patient with the duodenal diaphragm and small bowel malrotation, a dilated duodenal bulb and obstructed lower portion of the duodenum was observed on an upper gastrointestinal study (Fig. 2C). In the patient with hypertrophic cardiomyopathy, atrial septal defect, arrhythmia, club foot, and oligohydramnios, and cardiomegaly were identified (Fig. 2D). In the patient with unilateral microtia and an asymmetric face, the external auditory canal of the right ear was absent on three-dimensional reconstruction images of the computed tomography (Fig. 2E). Brain stem-evoked audiometry responses were tested in all patients. One patient (case 7) was found to have severe hearing difficulty in both ears, and in the patient with microtia, the affected ear was non-responsive to stimuli. We followed these patients for 6 to 32 months and performed developmental assessments with the Bayley and social maturity scales. All patients showed normal progress in motor, language, and social development.

Bottom Line: The pericentric inversion of chromosome 9 is one of the most common structural balanced chromosomal variations and has been found in both normal populations and patients with various abnormal phenotypes and diseases.The most common type of structural abnormality was inv(9)(p11q13), found in eight patients.Since our results indicate that the incidence of inv(9)(p11q13) in patients with congenital anomalies was not significantly different from the normal population, inv(9)(p11q13) does not appear to be pathogenic with regard to the congenital anomalies.

View Article: PubMed Central - PubMed

Affiliation: Departments of Medical Genetics, School of Medicine, Ajou University, Suwon, Korea.

ABSTRACT

Purpose: The pericentric inversion of chromosome 9 is one of the most common structural balanced chromosomal variations and has been found in both normal populations and patients with various abnormal phenotypes and diseases. The aim of this study was to re-evaluate the clinical impact of inv(9)(p11q13).

Materials and methods: We studied the karyotypes of 431 neonates with congenital anomalies at the Pediatric Clinic in Ajou University Hospital between 2004 and 2008 and retrospectively reviewed their clinical data.

Results: Chromosomal aberrations were detected in 60 patients (13.9%). The most common type of structural abnormality was inv(9)(p11q13), found in eight patients. Clinical investigation revealed that all eight cases with inv(9)(p11q13) had various congenital anomalies including: polydactyly, club foot, microtia, deafness, asymmetric face, giant Meckel's diverticulum, duodenal diaphragm, small bowel malrotation, pulmonary stenosis, cardiomyopathy, arrhythmia, and intrauterine growth restriction. The cytogenetic analysis of parents showed that all of the cases were de novo heterozygous inv(9)(p11q13).

Conclusion: Since our results indicate that the incidence of inv(9)(p11q13) in patients with congenital anomalies was not significantly different from the normal population, inv(9)(p11q13) does not appear to be pathogenic with regard to the congenital anomalies. Some other, to date unknown, causes of the anomalies remain to be identified.

Show MeSH
Related in: MedlinePlus