Case Report Open Access Pereira et al., J Genet Syndr Gene Ther 2016, 7:2 DOI: 10.4172/2157-7412.1000288 Volume 7 • Issue 2 • 1000288 J Genet Syndr Gene Ther ISSN: 2157-7412 JGSGT, an open access journal Keywords: Developmental disorders; Challenging behavior; Mental illness; Intellectual disabilities; 4q- syndrome; Rare chromosome disorders Introduction Developmental disorders comprise a heterogeneous group of conditions characterized by an interruption in normal development during childhood with many etiologies. ese include individuals with genetic syndromes, autism spectrum disorders and individuals who have suffered medical or environmental insults in the prenatal period or during childhood [1,2]. e prevalence of depression, anxiety and psychosis is high in this population, with 30-64% of patients developing comorbid psychiatric conditions [2]. We report the case of an 18 years old man with karyotype 46, XY, del (4) (q21.1q21.3), and describe his psychiatric symptoms and respective management. e term 4q- syndrome was used for the first time by Townes and colleagues referring to chromosome deletions at the breakpoint 4q31 [3], and was later extended to include terminal deletions. e following Table 1 summarizes the 4q syndrome features, organized by system. e main features of this syndrome are mild facial and digital dysmorphism, developmental delay, growth retardation and skeletal and cardiac abnormalities [3-6]. Autistic spectrum disorder has a significant incidence of 33% in 4q deletion syndrome [7]. e available research supports the existence of a common phenotype in children with deletions of the long arm of chromosome 4, which is partly explained by epigenetics [4]. A hypothetical partial phenotype-genotype map was made for chromosome 4q, which includes BMP3, SEC31A, MAPK10, SPARCL1, DMP1, IBSP, PKD2, GRID2, PITX2, NEUROG2, ANK2, FGF2, HAND2, and DUX4 genes [8]. e evidence in the available articles supports that the molecular characterization of breakpoints is essential for the management of these patients [6]. *Corresponding author: Maria Emília Pereira, Psychiatric resident, Centro Hospitalar de Lisboa Ocidental, Mental Health and Psychiatry, Rua da Jun- queira, 126, Lisbon, 1349-019 Lisboa, Portugal, Tel: +351935949712; E-mail: maria.emiliacm.pereira@gmail.com Received January 22, 2016; Accepted February 17, 2016; Published February 24, 2016 Citation: Pereira ME, Silva RC, Velosa A, Barahona-Corrêa B (2016) 4q- Deletion Syndrome: Psychiatric Symptoms in a Rare Chromosomal Disorder. J Genet Syndr Gene Ther 7: 288. doi:10.4172/2157-7412.1000288 Copyright: © 2016 Pereira ME, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. 4q- Deletion Syndrome: Psychiatric Symptoms in a Rare Chromosomal Disorder Maria Emília Pereira 1 *, Ricardo Caetano Silva 1,2 , Ana Velosa 1 and Bernardo Barahona-Corrêa 1-4 1 Hospital de Egas Moniz – Departamento de Psiquiatria e Saúde Mental, Portugal 2 Departamento de Psiquiatria e Saúde Mental- Nova Medical School, Portugal 3 Champalimaud Center for the Unknown, Portugal 4 CADIn - Centro de Apoio ao Desenvolvimento Infantil, Portugal Abstract We present the case of an 18-year-old man with the karyotype 46, XY, del (4) (q21.1q21.3), and describe in detail the clinical findings, with emphasis on the psychiatric symptoms and their management. 4q- syndrome comprises all deletions of the long arm of chromosome 4. It consists of facial and digital dysmorphisms, skeletal and cardiac defects, growth retardation and learning difficulties. Our report contributes to the understanding of the natural history and management of this rare chromosomal disorder. Clinical Case A Caucasian non-consanguineous couple in their late twenty’s, with no relevant family history, got pregnant naturally. ree ultrasound screening scans were performed during pregnancy at 12, 21 and 32 weeks. e pregnancy progressed well apart from the late period when oligoamnios occurred. is resulted in fetal distress and a caesarean section was performed. e patient was born with 3100g, hypotonic and with facial dysmorphism, including up-slanting palpebral fissures. Furthermore, he also had small hands, clinodactyly in fingers and syndactyly in toes. (Figure 1and 2) He developed scoliosis, during childhood (Figure 3). Since birth, he was followed by a pediatrician due to severe psychomotor developmental delay, characterised by an absence of gait and speech development by the ages of 3 and 5 years old respectively. e summary of cytogenetic and clinical findings is described in Table 2. His diagnoses included a development disorder with intellectual disability (IQ < 50) and genetic changes. His karyotype test revealed chromosomal problems involving the long (q) arm of chromosome 4, an inverted insertion in chromosome 16 of the long arm of chromosome 9 and a reciprocal translocation between the long arm of chromosome 2 and the long arm of chromosome 9. When the patient was hospitalized in our service, he was an 18-year-old man, single, unemployed, who lived with his mother. He had pedopsychiatric consults at Hospital since the age of eleven due to several episodes of aggression directed to his family. For several years he was treated for aggression and anxiety with risperidone and lorazepam. He was clinically stable until October 2013, when, at the age of sixteen, Facial dysmorphism Frontal bossing; upwards slanting eyes; hypertelorism; low set ears; wide nasal bridge; receding chin; short neck; enamel defects Digital dysmorphism Short fingers and toes; clinodactyly Musculoeskeletal Scoliosis; Neonatal hypotonia Vision and hearing Deafness; impaired vision Neuro-developmental problems Severe speech delay; behavioural difficulties; intellectual disability Table 1: Syndrome features del (4) (q21.1q21.3), organized by system. Journal of Genetic Syndromes & Gene Therapy J o u r n a l o f G e n e t i c S y n d r o m e s & G e n e T h e r a p y ISSN: 2157-7412