RESUMO
Developmental delay (DD) is a condition wherein developmental milestones and learning skills do not occur at the expected age range for patients under 5 years of age. Intellectual disability (ID) is characterized by limited or insufficient development of mental abilities, including intellectual functioning impairments, such as learning and cause-effect relationships. Isolated and syndromic DD/ID cases show extreme genetic heterogeneity. Array-based comparative genomic hybridization aCGH) can detect copy number variations (CNVs) on the whole genome at higher resolution than conventional cytogenetic methods. The diagnostic yield of aCGH was 15.0-20.0% in DD/ID cases. The aim of this study was to discuss the clinical findings and aCGH analysis results of isolated and syndromic DD/ID cases in the context of genotype-phenotype correlation. The study included 139 cases (77 females, 62 males). Data analysis revealed 38 different CNVs in 35 cases. In this study, 19 cases with pathogenic CNVs (13.6%) and five cases with likely pathogenic CNVs (3.5%) were found in a total of 139 cases diagnosed with DD/ID. When all pathogenic and likely pathogenic cases were evaluated, the diagnosis rate was 17.1%. The use of aCGH analysis as a first-tier test in DD/ID cases contributes significantly to the diagnosis rates and enables the detection of rare microdeletion/microduplication syndromes. The clear determination of genetic etiology contributes to the literature in terms of genotype-phenotype correlation.
RESUMO
Multiple renal cysts in adult patients could have asymptomatic, benign and a nonprogressive course. However, these cysts could be renal features of a very rare hereditary, progressive syndrome defined as cranioectodermal dysplasia (CED or Sensenbrenner syndrome). Affected patients show dysmorphic features such as craniosynostosis, nail dystrophy, cutaneous dyshydrosis, dry or scaly palmar skin, trichodysplasia, deafness, pectus excavatum, telecanthus, hypertelorism, low set ears, everted lower lip, anteverted nares, short neck and height, joint laxity, inguinal hernia, widely spaced teeth, microdontia, hypodontia in addition to nephronophthisis. We report a 22-year-old male hypertensive patient with multiple renal cysts and dental malformations listed as malocclusion, screwdriver shaped crowns, widely spaced front teeth, microdontia and hyperdontia. Molecular analysis reported missense p.(Ala875Thr) and p.(Lys969Asn) variants in the WDR35 gene. The 1-year follow-up of this case provided the knowledge that angiotensin II receptor blocker drug (olmesartan) reduced the microalbuminuria to normal levels and preserved the renal functions. We suggest interdisciplinary studies, especially intraoral and genetic evaluations for patients with cystic renal diseases. For the first time we report that hyperdontia could be found as a dental feature of CED.
RESUMO
Partial deletion of the long arm of the chromosome 13, 13q deletion syndrome is a rare chromosomal disorder characterized by severe growth and mental retardation, microcephaly, facial dysmorphism, brain malformations (holoprosencephaly, Dandy-Walker malformation), distal limb defects, eye anomalies, genitourinary and gastrointestinal tract malformations (Hirschsprung's disease). Approximately 1.2 Mb region in 13q32 was suggested as minimal critical region which is responsible for severe mental and growth retardation and brain anomalies. Here we described a male patient with de novo interstitial deletion of 13q31.1-q34 associated with short stature, microcephaly, facial dysmorphism, clinodactyly, cryptorchidism, micropenis, epilepsy, HPE, DWM, and HSCR. According to the literature review, present case indicated that smallest deleted region associated with DWM and HPE might be located at the 13q32.3, limb defects 13q34, anogenital malformations 13q33.3-34, and HSCR 13q31.1-32.1.
Assuntos
Anormalidades Múltiplas/genética , Transtornos Cromossômicos/genética , Síndrome de Dandy-Walker/genética , Doença de Hirschsprung/genética , Holoprosencefalia/genética , Deleção Cromossômica , Cromossomos Humanos Par 13/genética , Humanos , Lactente , MasculinoRESUMO
Duplications of 20q are rare. Here we report a 15 years old boy with de novo duplication of 17.1 Mb at chromosome 20q. We made a comparison with the other isolated 20q duplication cases. There are phenotypic similarities between the patients who have the same affected chromosomal regions. We also showed a clinical follow up of the patient. There may be a relationship with Glaucoma and Graves disease between the chromosomal region and these diseases may occur at the other patients when they get older.
Assuntos
Duplicação Cromossômica/genética , Cromossomos Humanos Par 20/genética , Análise Citogenética , Glaucoma/genética , Doença de Graves/genética , Deficiência Intelectual/genética , Adolescente , Hibridização Genômica Comparativa , Anormalidades Craniofaciais/diagnóstico , Anormalidades Craniofaciais/genética , Seguimentos , Genótipo , Glaucoma/diagnóstico , Doença de Graves/diagnóstico , Humanos , Deficiência Intelectual/diagnóstico , Masculino , FenótipoRESUMO
Partial trisomy 9q34-qter and partial monosomy 8q24.3-qter are very rare chromosomal abnormalities. Characteristic features of partial trisomy 9q34-qter are hypotonia, developmental delay, mild intellectual disability, dolichocephaly, distinct facial phenotype, long and thin fingers, and cardiac anomalies. Unlike the partial trisomy 9q34-qter, partial monosomy 8q24.3-qter has no distinct phenotype. Here we report a four years old female patient with partial trisomy 9q34-qter and partial monosomy 8q24.3-qter due to the maternal translocation t(8;9)(q24.3;q34. I). She has developmental delay, brachycephaly, facial dysmorphism, hand and foot anomalies, bilateral hearing loss, cardiac defect and abnormal brain MRI findings. To the best of our knowledge, this is the first report of the combination of partial trisomy 9q and partial monosomy 8q.
Assuntos
Anormalidades Múltiplas/genética , Deficiências do Desenvolvimento/genética , Translocação Genética/genética , Trissomia , Encéfalo/anormalidades , Pré-Escolar , Deleção Cromossômica , Cromossomos Humanos Par 8/genética , Cromossomos Humanos Par 9/genética , Anormalidades Craniofaciais , Facies , Feminino , Humanos , Hibridização in Situ Fluorescente , Deficiência Intelectual/genética , Imageamento por Ressonância Magnética , Atrofia Muscular/genética , Trissomia/genética , Trissomia/patologia , Trissomia/fisiopatologiaAssuntos
Deleção Cromossômica , Transtornos Cromossômicos , Mosaicismo , Pré-Escolar , Transtornos Cromossômicos/genética , Transtornos Cromossômicos/patologia , Transtornos Cromossômicos/fisiopatologia , Cromossomos Humanos Par 18/genética , Deficiências do Desenvolvimento/diagnóstico , Deficiências do Desenvolvimento/genética , Humanos , Masculino , FenótipoRESUMO
Onychotrichodysplasia, a rare autosomal recessive disorder, presents with hypoplastic fingernails, trichorrhexis, chronic neutropenia, and psychomotor retardation. Here, we describe a rare presentation of a child with onycotrichodysplasia associated with intellectual disability, but without neutropenia. He had sparse, short, dry, curly hair, dysplastic nails and intellectual disability. In contrast to cases described earlier, our patient had normal neutrophil count.
