Tetrasomy 9p Mosaicism Associated with a Normal Phenotype

Vol. 20, No. 3, 2005

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Paper

Tetrasomy 9p Mosaicism Associated with a Normal Phenotype
Fionnuala McAuliffe^a,b, Elizabeth J.T. Winsor^c,d, David Chitayat^a,c

^aDepartment of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Canada;
^bDepartment of Obstetrics and Gynaecology, National Maternity Hospital, University College Dublin, Dublin, Ireland;
^cPrenatal Diagnosis and Medical Genetics Program and
^dDepartment of Pathology and Laboratory Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Canada

Address of Corresponding Author

Fetal Diagn Ther 2005;20:219-222 (DOI: 10.1159/000083909)

Key Words

Tetrasomy 9p
Mosaicism
Prenatal diagnosis

Abstract

Isochromosome (tetrasomy) 9p is a rare chromosomal aberration characterized by phenotypic abnormalities ranging from mild developmental delay to multiple anomalies including intrauterine growth retardation, cerebral ventriculomegaly, dysmorphic facial features, cleft lip or palate, abnormal genitalia and renal anomalies. We present a patient with isochromosome (tetrasomy) 9p mosaicism who is a healthy normal adult male with oligospermia who has fathered two normal children. This chromosomal abnormality may be tissue specific, with a higher detection rate in cultured lymphocytes compared with fibroblasts. Therefore, there is an increased chance of missing the abnormality prenatally by amniocentesis or chorionic villus sampling. We are aware of only one other patient in the literature with a normal phenotype associated with mosaicism for this chromosomal abnormality.

Author Contacts

Dr. David Chitayat
The Prenatal Diagnosis and Medical Genetics Program
Mount Sinai Hospital, Ontario Power Generation Building
700 University Avenue, 3rd Floor, M5G 1Z5, Toronto, Ontario (Canada)
Tel. +1 416 586 4523, Fax +1 416 586 4723, E-Mail Dchitayat@mtsinai.on.ca

Article Information

Received: March 24, 2004
Accepted: May 11, 2004
Number of Print Pages : 4
Number of Figures : 1, Number of Tables : 0, Number of References : 19

Medline Abstract (ID 15824502)

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