Balkan Journal of Medical Genetics

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
page: 0

MATERIALS AND METHODS

Patient A was a 19-year-old gravida 1, referred for genetic testing at 24 weeks. She was selected due to a unilateral multicystic dysplastic kidney of the fetus, without other anomalies and with a normal fetal growth. The results of the biochemical screening for chromosomal aneuploidies were not available. Patient B was a 26-year-old gravida 1, referred for genetic testing at 17 weeks. She was selected due to megabladder (defined as the sagittal dimension of the bladder (mm) greater than gestational age (weeks) plus 12), single umbilical artery, choroid plexus cyst, and possibly absent ductus arteriosus. First trimester biochemical screening results showed a high risk for chromosomal aneuploidies (1/56 for trisomy 21, 1/107 for trisomy 13, and 1/193 for trisomy 18; cutoff 1/250). In both cases, amniotic fluid was collected for analysis. Patient C was a 7 year 5 months old boy, referred to genetic investigations following a diagnosis of autism spectrum disorder with developmental delay. He is the second child of healthy, nonconsanguineous parents born at 39 weeks, after a normal pregnancy, except for an ultrasound image of hydronephrosis in the right kidney at 22 weeks of gestation. With a birth weight of 2,850 g, a length of 52 cm, and an Apgar score of 7 due to some breathing difficulties, the patient had good postnatal adaptation. His developmental landmarks were delayed (he held his head at 7 months, sat at 12 months, walked at 1 year and 7 months, and pronounced first syllables at 1 year and 8 months, with his first words at 5 years). Hydronephrosis was surgically corrected at 12 months. He was diagnosed with autism spectrum disorder (ASD) at 3 years and started applied behavior analysis (ABA) therapy as well as speech therapy and cognitive stimulation at the age of 4. Currently, he attends his final year of kindergarten, with satisfactory results, though with socialization difficulties. The family history revealed the presence of a maternal cousin with cognitive delay and epilepsy. Clinical evaluation showed macrocephaly (occipitofrontal circumference 58 cm, +4.3 SD), dysmorphic facial features (deep set eyes, synophris, long philtrum, anteverted nostrils, posteriorely rotated ears, abnormal teeth, micrognathia); prominent occiput; joint hyperlaxity, single palmar crease, spindle-shaped fingers, clinodactily of the fifth finger; inverted nipples; small phallus and bilateral cryptorchidism; hirsutism; poor fine and gross motor skills, hypotonia, language and speech problems (poor language production, inability to understand complex orders, echolalia, polymorphic dyslalia); mild intellectual disability (IQ 60); social skills deficit with poor eye contact, difficulties in interaction with other persons, stereotyped behavior, low tolerance to frustration. An MRI investigation showed a mild bilateral frontal atrophy and a small frontobasal subarachnoidian cyst. Genetic counselling of the patients was done by a clinical geneticist. Written informed consent on the use of their data for scientific purposes was given by the patients (A, B) or patient’s legal guardian (C). Array-CGH was performed on an Agilent Technologies 60K platform according to the supplied protocol for patients A and B, while SNP array (Affymetrix) on a 750K platform was carried out for C patient. Following genetic analysis, pregnancies of patients A and B were terminated, without pursuing any further investigations. Written informed consent on the use of their data for scientific purposes was given by all patients, in compliance with international and national regulations. Patient C was investigated within the frame of research project EEA RO-NO 6/2019, in accordance with the above regulations and approved by the institutional Ethics Committee, no. 33/Nov. 26, 2019.

Number 27 VOL. 27 (2), 2024	Number 27 VOL. 27 (1), 2024
Number 26 Number 26 VOL. 26(2), 2023 All in one	Number 26 VOL. 26(2), 2023
Number 26 VOL. 26, 2023 Supplement	Number 26 VOL. 26(1), 2023
Number 25 VOL. 25(2), 2022	Number 25 VOL. 25 (1), 2022
Number 24 VOL. 24(2), 2021	Number 24 VOL. 24(1), 2021
Number 23 VOL. 23(2), 2020	Number 22 VOL. 22(2), 2019
Number 22 VOL. 22(1), 2019	Number 22 VOL. 22, 2019 Supplement
Number 21 VOL. 21(2), 2018	Number 21 VOL. 21 (1), 2018
Number 21 VOL. 21, 2018 Supplement	Number 20 VOL. 20 (2), 2017
Number 20 VOL. 20 (1), 2017	Number 19 VOL. 19 (2), 2016
Number 19 VOL. 19 (1), 2016	Number 18 VOL. 18 (2), 2015
Number 18 VOL. 18 (1), 2015	Number 17 VOL. 17 (2), 2014
Number 17 VOL. 17 (1), 2014	Number 16 VOL. 16 (2), 2013
Number 16 VOL. 16 (1), 2013	Number 15 VOL. 15 (2), 2012
Number 15 VOL. 15, 2012 Supplement	Number 15 Vol. 15 (1), 2012
Number 14 14 - Vol. 14 (2), 2011	Number 14 The 9th Balkan Congress of Medical Genetics
Number 14 14 - Vol. 14 (1), 2011	Number 13 Vol. 13 (2), 2010
Number 13 Vol.13 (1), 2010	Number 12 Vol.12 (2), 2009
Number 12 Vol.12 (1), 2009	Number 11 Vol.11 (2),2008
Number 11 Vol.11 (1),2008	Number 10 Vol.10 (2), 2007
Number 10 10 (1),2007	Number 9 1&2, 2006
Number 9 3&4, 2006	Number 8 1&2, 2005
Number 8 3&4, 2004	Number 7 1&2, 2004
Number 6 3&4, 2003	Number 6 1&2, 2003
Number 5 3&4, 2002	Number 5 1&2, 2002
Number 4 Vol.3 (4), 2000	Number 4 Vol.2 (4), 1999
Number 4 Vol.1 (4), 1998	Number 4 3&4, 2001
Number 4 1&2, 2001	Number 3 Vol.3 (3), 2000
Number 3 Vol.2 (3), 1999	Number 3 Vol.1 (3), 1998
Number 2 Vol.3(2), 2000	Number 2 Vol.1 (2), 1998
Number 2 Vol.2 (2), 1999	Number 1 Vol.3 (1), 2000
Number 1 Vol.2 (1), 1999	Number 1 Vol.1 (1), 1998

About the journal ::: Editorial ::: Subscription ::: Information for authors ::: Contact