Case Report Molecular characterization of microduplication 22q11.2 in a girl with hypernasal speech

Abstract

ABSTRACT. We present a 12-year-old girl with karyotype 46,XX. A comparative genomic hybridization array revealed a 3.172-Mb microduplication on 22q11.2. This chromosome 22q11.2 region microduplication has been described in patients with variable phenotypes; a large majority of them have identical 3-Mb duplications. The girl presented mild mental motor retardation, facial dysmorphism consisting of a long narrow face, widely spaced eyes, downslanting palpebral fissures, broad nasal base, short philtrum, thin upper lip, micro/retrognathia, low set and retroverted ears, microcephaly, higharched palate, hypoplastic teeth, and hypernasal speech. She had delayed psychomotor development and behavioral problems. Molecular characterization of patients differs greatly among reports and detailed molecular characterization and documentation are needed to better understand the effects of these duplications. This description of the phenotype of a patient with microduplication on 22q11.2 will contribute 2149 ©FUNPEC-RP www.funpecrp.com.br Genetics and Molecular Research 10 (3): 2148-2154 (2011) Hypernasal speech and 22q11.2 microduplication to the growing knowledge regarding deletions and duplications of the 22q11.2 region; this is important to conclude whether 22q11.2 duplication is a microduplication syndrome or not.

Modeling and Predicting Developmental Trajectories of Neuropsychiatric Dimensions Associated With Copy Number Variations

“…Duplication of 22q11.2 was also identified by a team of researchers at the Albert Einstein College of Medicine (Edelmann et al, 1999). Many cases of 22q11.2 duplication were shown to exhibit epilepsy, ID, ADHD, and ASD (Ensenauer et al, 2003; Hassed et al, 2004; Portnoï et al, 2005, 2009; Yobb et al, 2005; de La Rochebrochard et al, 2006; Alberti et al, 2007; Engels et al, 2007; Mukaddes and Herguner, 2007; Torres-Juan et al, 2007; Descartes et al, 2008; Ramelli et al, 2008; Wentzel et al, 2008; Yu et al, 2008; Lo-Castro et al, 2009; Soysal et al, 2011; Wenger et al, 2016) at rates higher than those of noncarriers (Hoeffding et al, 2017; Olsen et al, 2018). Schizophrenia samples have shown lower rates of 22q11.2 duplication compared with controls; therefore, this variant is considered to be a protective factor (Rees et al, 2014a).…”

Identification of Proximal and Distal 22q11.2 Microduplications among Patients with Cleft Lip and/or Palate: A Novel Inherited Atypical 0.6 Mb Duplication

“…Cognitive impairment and facial dysmorphism are the most common feature observed in more than half of the patients with duplications of 22q11 [ 1 ]. The other clinical features include velopharyngeal insufficiency, congenital heart disease, anal and urogenital abnormalities, congenital hypothyroidism, musculoskeletal problems, and ocular manifestations [ 1 , 9 – 11 ]. 22q11.2 duplication may be inherited with an autosomal dominant pattern or occur because of a de novo rearrangement [ 1 ].…”

Investigação de alterações cromossômicas crípticas em indivíduos com deficiência intelectual idiopática

“…sem fenda palatina, voz hipemasalizada e anomalias urogenitais(PORTNOI, 2009;SOYSAL et al, 2011).A duplicação 22q 11.2 detectada no paciente 27 foi confirmada pela técnica de qPCR, enquanto seus pais apresentaram dosagem gênica normal, evidenciando tratar-se de uma microduplicação 22q 11.e manutenção sináptica, reforçando a existência de vias biológicas comuns nas desordens do desenvolvimento neurológico. Um deles é o gene SEZ6L2, considerado um forte candidato para características comuns associadas a microdeleção16p l 1.2 devido ao alto nível de expressão no cérebro, além da forte homologia com o gene SRPX2 (OMIM*300642) que desempenha um papel no desenvolvimento da fala e dos centros 6.3.5 Microdeleção 14qll.2 -Paciente 33 No paciente 33 o arra y -CGH identificou uma microdeleção na região 14ql 1.2 com aproximadamente 122,5 kb de extensão (20,2 a 20,3 Mb/hg19), incluindo os genes receptores olfativos OR4N2 e…”