SINDROME DA MICRODELEZIONE 17q21.31: DESCRIZIONE DI UN CASO CON ELEVATA ESPRESSIVITA' CLINICA

[automatically translated] The sr microdeletion 17q21.31 (prevalence 1: 16,000) is a newly genomic disorder identificazione.I clinical signs include: mental retardation and developmental delay, hypotonia, facial dysmorphia, nasal voice, tapering fingers, heart disease, brain abnormalities, seizures, renal and urogenital abnormalities, joint laxity, conductive hearing loss, dental abnormalities, deformities of the foot and the column, strabismus and ipermetropia.La diagnosis is confirmed by detection, molecular analysis, the deletion of the critical region, which stretches for 424 kb 17q21.31 and includes at least six genes, including MAPT, highly expressed in brain and involved in many neurodegenerative diseases. We describe an infant with facial dysmorphia, multiple congenital anomalies and microdel 17q21.31.Anamnesi gravidarum: reflected ultrasound bilateral hydronephrosis. Perinatal history: born of the pregnancy at the 35th WG + 4 from TCEO: P 2.330g (31 ° C); L 45cm (22 ° C); CC31,5 cm (21 ° C) .Ipertelorismo nose "pear" filter long, upper lip sottile.Criptorchidismo bilateral. generalized hypotonia with reflections torpidi.Piede "gondola" with overlapping of the fourth finger on V, bilaterally. Eco kidneys: Bilateral marked hydroureteronephrosis. CMU: VUR IV-V degree right, II degree to left. MRI brain: partial agenesis of the corpus callosum, ventriculomegaly and hypertrophy of the cortex of the isthmus around the right track. PEU: increase in latency of the main component values. Karyotype: 46, XY. a-CGH: monosomy of 17q21.31 region. FISH confirmed this deletion. In accordance with the molecular cytogenetic analysis in the parents. The clinical and molecular picture of the newborn described is compatible with a diagnosis of sr from microdel 17q21.31. The deletion of our pcs is de novo, and the risk of recurrence for subsequent pregnancies is low (<1%). Many genomic disorders, including microdeletion 17q21.31, are due to an altered gene dosage of one or more dosage-sensitive genes in the rearranged region. Although the MAPT gene may play an important pathogenic role, it is likely that the sr is not caused only dall'aploinsufficienza of MAPT, but other genes in the critical region, sr configuring a contiguous gene. including the microdeletion 17q21.31, they are due to an altered gene dosage of one or more dose sensitive-genes rearranged within the region. Although the MAPT gene may play an important pathogenic role, it is likely that the sr is not caused only dall'aploinsufficienza of MAPT, but other genes in the critical region, sr configuring a contiguous gene. including the microdeletion 17q21.31, they are due to an altered gene dosage of one or more dose sensitive-genes rearranged within the region. Although the MAPT gene may play an important pathogenic role, it is likely that the sr is not caused only dall'aploinsufficienza of MAPT, but other genes in the critical region, sr configuring a contiguous gene.