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
Coffin-Lowry syndrome (CLS) is a rare X linked mental retardation syndrome characterised by severe psychomotor and growth retardation, distinct facial phenotype, and progressive skeletal malformations. It is caused by mutations in the RPS6KA3 gene located at Xp22.2. In this report we describe a family with CLS consists of three affected males, and two affected females, arising from c.898C>T mutation in RPS6KA3 gene. A 6 year-old, and a 3 year-old boy both had distinct clinical features of Coffin-Lowry syndrome; severe mental and motor retardation, microcephaly, prominent forehead, hypertelorism, large mouth, large ears, large soft hands, puffy tapered fingers, and pectus carinatum. In addition, they had multiple abnormal brain MRI findings. Other siblings presented with a mild and variable phenotype.
Assuntos
Anormalidades Múltiplas/genética , Encéfalo/patologia , Síndrome de Coffin-Lowry/genética , Proteínas Quinases S6 Ribossômicas 90-kDa/genética , Irmãos , Anormalidades Múltiplas/patologia , Adolescente , Criança , Pré-Escolar , Síndrome de Coffin-Lowry/patologia , Feminino , Humanos , Masculino , MutaçãoRESUMO
In this report we describe a 10 year-old female patient with interstitial deletion of 9q32-q34.1 associated with mental retardation, developmental delay, short stature, mild facial dysmorphism, epilepsy, abnormal EEG and brain MRI findings consistent with focal cortical dysplasia. Interstitial deletion of 9q associated with q32-q34 is found extremely rare. Common features of seven previously reported cases are mental retardation, developmental delay, short stature, a distinct cranial and facial phenotype (brachycephaly, low midface, low and prominent forehead, and low set malformed ears). Combination of epilepsy, abnormal EEG and brain MRI findings are not reported before.
Assuntos
Deleção Cromossômica , Cromossomos Humanos Par 9/genética , Deficiências do Desenvolvimento/genética , Epilepsia/genética , Deficiência Intelectual/genética , Malformações do Desenvolvimento Cortical/genética , Criança , Feminino , HumanosRESUMO
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 , Fácies , 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.