Adult case of partial trisomy 9q

Tiong, Keith, Cotterill, Andrew and Falhammar, Henrik (2010) Adult case of partial trisomy 9q. BMC Medical Genetics, 11 26: . doi:10.1186/1471-2350-11-26

Author Tiong, Keith
Cotterill, Andrew
Falhammar, Henrik
Title Adult case of partial trisomy 9q
Journal name BMC Medical Genetics   Check publisher's open access policy
ISSN 1471-2350
Publication date 2010-02-16
Sub-type Article (original research)
DOI 10.1186/1471-2350-11-26
Open Access Status DOI
Volume 11
Issue 26
Total pages 5
Place of publication London , U. K.
Publisher BioMed Central
Collection year 2011
Language eng
Formatted abstract

Complete and partial trisomy 9 is the fourth most common chromosomal disorder. It is also associated with various congenital characteristics affecting the cranio-facial, skeletal, central nervous, gastrointestinal, cardiac and renal systems. Very few cases have been reported in adults. Partial trisomy 9q is also associated with short stature, poor growth and growth hormone deficiency. This is the first reported case of an extensive endocrinology investigation of short stature in trisomy 9q and the outcome of growth hormone treatment.

Case Presentation

The case involves a 23-year-old female of pure partial trisomy 9q. The case involves a 23-year old female with pure partial trisomy 9q involving a duplication of 9q22.1 to q32, de novo, confirmed by genetic studies using fluorescene in situ hybridization (FISH) method. The diagnosis was at 6 years of age. She did not demonstrate all the congenital morphologies identified with trisomy 9q disorders especially in relation to multi-organ morphologies. There is also a degree of associated intellectual impairment. At prepuberty, she was referred for poor growth and was diagnosed with partial growth hormone deficiency. She responded very well to treatment with growth hormone and is currently living an independent life with some support.


Trisomy 9q is associated with short stature and failure to thrive. Growth hormone deficiency should be identified in cases of trisomy 9q and treatment offered. This is the first reported case of response to growth hormone replacement in partial trisomy 9.
Keyword Pyloric-stenosis
Human growth hormone
chromosome 9
Fluorescence in situ hybridization
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status Non-UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Non HERDC
School of Medicine Publications
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Created: Sun, 25 Apr 2010, 00:06:18 EST