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Open Access Highly Accessed Case report

Familial deletion 18p syndrome: case report

Bruno Maranda1, Nicole Lemieux2 and Emmanuelle Lemyre1*

Author Affiliations

1 Service de génétique médicale, Département de Pédiatrie, CHU Ste-Justine, Université de Montréal, Montréal, Canada

2 Département de Pathologie, CHU Ste-Justine, Université de Montréal, Université de Montréal, Montréal, Canada

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BMC Medical Genetics 2006, 7:60  doi:10.1186/1471-2350-7-60

Published: 14 July 2006

Abstract

Background

Deletion 18p is a frequent deletion syndrome characterized by dysmorphic features, growth deficiencies, and mental retardation with a poorer verbal performance. Until now, five families have been described with limited clinical description. We report transmission of deletion 18p from a mother to her two daughters and review the previous cases.

Case presentation

The proband is 12 years old and has short stature, dysmorphic features and moderate mental retardation. Her sister is 9 years old and also has short stature and similar dysmorphic features. Her cognitive performance is within the borderline to mild mental retardation range. The mother also presents short stature. Psychological evaluation showed moderate mental retardation. Chromosome analysis from the sisters and their mother revealed the same chromosomal deletion: 46, XX, del(18)(p11.2). Previous familial cases were consistent regarding the transmission of mental retardation. Our family differs in this regard with variable cognitive impairment and does not display poorer verbal than non-verbal abilities. An exclusive maternal transmission is observed throughout those families. Women with del(18p) are fertile and seem to have a normal miscarriage rate.

Conclusion

Genetic counseling for these patients should take into account a greater range of cognitive outcome than previously reported.