Síndrome de microdeleção 2q32 em paciente da Amazônia ocidental / 2q32 microdeletion syndrome in a patient from the western Amazon

Introdução: As deleções intersticiais envolvendo a região 2q31q32 são reconhecidas como um transtorno clínico, envolvendo diversas manifestações como deficiência intelectual, retardo no crescimento, distúrbios comportamentais e dismorfologias faciais. Os números reduzidos de relatos de pacientes acometidos por essa síndrome contribui para que as correlações genótipos-fenótipos sejam difíceis de se fazer. Relato de caso: Paciente com inversão do braço longo do cromossomo 2 [46, XX,inv(2)(q21q33)]. Apresentou ao exame físico dismorfológico fronte proeminente, epicanto, ponte nasal baixa, filtro nasolabial longo e lábio superior fino. Ao exame neurológico, apresentava hipotonia. Discussão: Uma correta interpretação cromossômica pode não só identificar a síndrome de microdeleção como também, descartar ou confirmar possíveis diagnósticos diferenciais, deixando evidente a necessidade e a importância de se reconhecer e documentar os casos (AU).

Introduction: Interstitial deletions involving the 2q31q32 region are recognized as a clinical disorder involving several manifestations, such as intellectual disability, growth retardation, behavioral disorders, and facial dysmorphologies. The reduced number of reports of patients affected by this syndrome contributes to the difficulty of making genotype-phenotype correlations. Case report: Patient with inversion of the long arm of chromosome 2 [46, XX,inv(2)(q21q33)]. On physical examination, he had a prominent forehead, epicanthus, low nasal bridge, long nasolabial philtrum and thin upper lip. Neurological examination showed hypotonia. Discussion: A correct chromosomal interpretation can identify the microdeletion syndrome and rule out or confirm possible differential diagnoses, highlighting the need and importance of recognizing and documenting cases (AU).

Prenatal diagnosis of mosaic trisomy 2: a case report / 中华围产医学杂志

We reported a case of mosaic trisomy 2.The patient was a 29-year-old gravida who underwent amniocentesis at 20 weeks of gestation because of high risk of trisomy-21 in the first trimester screening.The test result revealed a karyotype of 47,XN,+2[10]/46,XX[40].At 26 gestational weeks,the fetus was found severe fetal growth restriction and oligohydramnios which was considered to be at risk of mosaic trisomy 2.The pregnancy was terminated at 27+ gestational weeks.The fetus had obviously abnormal appearances,including dolichocephaly,low-set ears,and micromandible.Autopsy was not performed due to the parents' refusal.

Prenatal diagnosis and genetic analysis of increased fetal nuchal translucency due to 2p15-16.1 microdeletion: a case report / 中华围产医学杂志

We reported the prenatal molecular diagnosis and pregnant outcome of a fetus with increased nuchal translucency.The ultrasound findings of the gravida at 12+5 gestational weeks indicated that the fetal nuchal translucency thickness was 4.5 mm,and non-invasive prenatal testing suggested as low risk.Amniocentesis was performed at 18 gestational weeks.Fetal chromosomal karyotype was normal but chromosome microarray comparative genomic hybridization analysis identified a 1.878 Mb deletion on chromosome 2p15-16.1.No copy number variation was found in the parents.The microdeletion was also verified by multiplex ligation-dependent probe amplification.Literature reported that chromosome 2p 15-16.1 microdeletion syndrome was characterized by mental retardation,language developmental disorder,microcephaly and so on.This case we reported here was a de novo 2p 15-16.1 microdeletion which contained the critical region and genes of 2p 15-16.1 microdeletion syndrome and was inferred to be a pathogenetic mutation.The gravida chose to terminate the pregnancy after genetic consultation.

Clinical features of carriers of reciprocal chromosomal translocations involving chromosome 2: report of nine cases and review of the literature

ABSTRACT Objective: To explore the clinical features of carriers of chromosome 2 translocations, enabling informed genetic counseling of these patients. Materials and Methods: Eighty-two male carriers of a translocation who were infertile or receiving fertility counseling were recruited. Cytogenetic analyses were performed using G-banding. A search of PubMed was performed to determine whether the identified translocations on chromosome 2 are involved in male infertility. The relationships of translocation breakpoints with male infertility and recurrent pregnancy loss were analyzed. Results: Of the 82 translocation carriers, 9 (11%) were carriers of a chromosome 2 translocation. Four cases had oligozoospermia or infertility, while five had normal semen. In an analysis of the literature, 55 patients who were carriers of chromosome 2 translocations were also reviewed. Breakpoints at 2p13 and 2q31 were observed in six patients each, and were the most common. Breakpoints at 2p23, 2p13, 2p11.2, 2q31, and 2q37 were associated to both pre-gestational and gestational infertility, while other breakpoints were associated with gestational infertility. Conclusions: All breakpoints at chromosome 2 were correlated with gestational infertility. Carriers of chromosome 2 translocations should therefore receive counseling to continue with natural conception and use of different technologies available via assisted reproductive technology, such as preimplantation genetic diagnosis.

Partial Trisomy 2q(2q37.3->qter)and Monosomy 7q(7q34->qter) Due to Paternal Reciprocal Translocation 2;7: A Case Report

We report an unbalanced translocation involving chromosome 2 and 7 due to a balanced reciprocal translocation 2;7 in the father. The female fetus had a partial trisomy of the long arm of chromosome 2 with a partial monosomy of distal 7q. Ultrasound at the first trimester had indicated normal fetal anatomy, including normal intracranial structures. Parental karyotypes showed a paternal balanced translocation: 46,XY,t(2;7)(q37.3;->q34). The unbalanced translocation in the fetus resulted in trisomy for 2q37.3 qter and monosomy for 7q34->qter. Postnatal examination showed that the female abortus had a cleft lip and palate, and mild dysmorphic features. The clinical phenotype was in agreement with previous descriptions and allowed us to propose a fetal phenotype for this chromosomal abnormality.