Hostname: page-component-7c8c6479df-94d59 Total loading time: 0 Render date: 2024-03-29T14:40:49.804Z Has data issue: false hasContentIssue false

Patient with partial trisomy 9q and learning disability but no pyloric stenosis

Published online by Cambridge University Press:  10 December 2003

Markus Hengstschläger
Affiliation:
Obstetrics and Gynaecology Department, Prenatal Diagnosis and Therapy, University of Vienna, Vienna, Austria.
Andrea-Romana Prusa
Affiliation:
Children's Hospital, Department of Neonatology and Intensive Care, University of Vienna, Vienna, Austria.
Christa Repa
Affiliation:
Obstetrics and Gynaecology Department, Prenatal Diagnosis and Therapy, University of Vienna, Vienna, Austria.
Regina Drahonsky
Affiliation:
Obstetrics and Gynaecology Department, Prenatal Diagnosis and Therapy, University of Vienna, Vienna, Austria.
Josef Deutinger
Affiliation:
Obstetrics and Gynaecology Department, Prenatal Diagnosis and Therapy, University of Vienna, Vienna, Austria.
Arnold Pollak
Affiliation:
Children's Hospital, Department of Neonatology and Intensive Care, University of Vienna, Vienna, Austria.
Gerhard Bernaschek
Affiliation:
Obstetrics and Gynaecology Department, Prenatal Diagnosis and Therapy, University of Vienna, Vienna, Austria.
Get access

Abstract

Partial trisomy of the long arm of chromosome 9 represents a very rare and heterogeneous group of chromosomal aberrations. Associated clinical features include learning disability and pyloric stenosis. We present the first patient to be reported with a duplication of the chromosome region 9q22.1→q33. The patient (female, age 17 years) presented with growth retardation, microcephaly, facial dysmorphia, oesophageal atresia, aortic stenosis, ventricular septal defect, atrial septal defect II, hypothyroidism, and learning disability, but no pyloric stenosis. A review of all cases of partial trisomy 9q reported in the literature demonstrates that learning disability is a characteristic feature of this group of chromosomal aberrations. However, there are cases of duplications of the same chromosome 9 material, with and without pyloric stenosis. This study provides new information for future genetic counselling, especially in cases of prenatal diagnosis of partial trisomy 9q.

Type
Case Report
Copyright
© 2004 Mac Keith Press

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)