PHENOTYPIC VARIABILITY
OF 17Q12 MICRODELETION SYNDROME –
THREE CASES AND REVIEW OF LITERATURE
Țuțulan-Cuniță A, Pavel AG, Dimos L, Nedelea M,
Ursuleanu A, Neacșu AT, Budișteanu M, Stambouli D
*Corresponding Author: Andreea Țuțulan-Cuniță, Cytogenomic Medical Laboratory, 35 Calea Floreasca,
Bucharest, 14453, Romania, Tel: 0040212331354, Fax: 0040212331357, E-mail: cunita@cytogenomic.ro
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Abstract
Chromosome 17q12 microdeletion syndrome is a
contiguous gene deletion syndrome caused by an 1-2 Mb
loss, characterized by multicystic dysplastic kidneys or
other urinary system anomalies starting in utero, including
autism or maturity-onset diabetes of the young in its
postnatal phenotype. Here, we report on three cases (two
prenatal and one postnatal) with distinct and novel clinical
presentations as compared with a large number of reviewed
patients, thus emphasizing the phenotypic variability of this
syndrome and the consequent difficulties in genetic counselling.
Prenatal hyperechogenic multicystic kidneys, as
well as other urinary tract anomalies, should be considered a
marker, therefore indicating the necessity of comprehensive
genetic testing, and autism should also be acknowledged
as a possible clinical presentation, postnatally.
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