Vici syndrome: a rare autosomal recessive syndrome with brain anomalies, cardiomyopathy, and severe intellectual disability [0.03%]
维西综合征：一种罕见的常染色体隐性综合征，具有脑异常、心肌病和严重智力障碍
R Curtis Rogers,Bridgette Aufmuth,Stephanie Monesson
R Curtis Rogers
Purpose. The objective of this study was to present and describe two additional patients diagnosed with Vici syndrome. Methods. Clinical, laboratory, and imaging findings of the two siblings are discussed in detail. The two patients' descri...
Case Reports
Case reports in genetics. 2011:2011:421582. DOI:10.1155/2011/421582 2011
Detection of chromosome x;18 breakpoints and translocation of the xq22.3;18q23 regions resulting in variable fertility phenotypes [0.03%]
检测X染色体和18号染色体断裂点以及Xq22.3；18q23区域易位，从而导致不同的生育表型
Attila Szvetko,Nicole Martin,Chris Joy et al.
Attila Szvetko et al.
We describe a familial pattern of gonosomal-autosomal translocation between the X and 18 chromosomes, balanced and unbalanced forms, in male and female siblings. The proposita was consulted for hypergonadotropic hypogonadism. Karyotype anal...
Case Reports
Case reports in genetics. 2012:2012:681747. DOI:10.1155/2012/681747 2012
Trisomy 11 as an additional chromosome alteration in a child with acute promyelocytic leukemia with poor prognosis [0.03%]
急性早幼粒细胞白血病患儿出现三体11的额外染色体异常
Elenice Ferreira Bastos,Lidiane Alice Silva,Marcelo Coelho Ramos et al.
Elenice Ferreira Bastos et al.
The prognostic significance of the additional abnormalities to the t(15; 17) remains controversial. We report a case of promyelocytic leukemia (APL) in a ten-year-old boy. Classical and molecular cytogenetic (FISH) studies of a bone marrow ...
Unique case reports associated with ovarian failure: necessity of two intact x chromosomes [0.03%]
与卵巢功能衰竭相关的独特病例报告：两套完整的X染色体的必要性
Lakshmi Rao Kandukuri,Venkata Padmalatha,Murthy Kanakavalli et al.
Lakshmi Rao Kandukuri et al.
Premature ovarian failure is defined as the loss of functional follicles below the age of 40 years and the incidence of this abnormality is 0.1% among the 30-40 years age group. Unexplained POF is clinically recognized as amenorrhoea (>6 mo...
Case Reports
Case reports in genetics. 2012:2012:640563. DOI:10.1155/2012/640563 2012
Joana Rita Chora,Helena Simões-Teixeira,Tiago Daniel Matos et al.
Joana Rita Chora et al.
Individual's hearing performance after cochlear implant (CI) is variable and depends on different factors such as etiology of deafness, age at implantation, and social/family hearing environment. Here we report the case of dizygotic twins, ...
Autism spectrum disorder in a girl with a de novo x;19 balanced translocation [0.03%]
携带新发X;19平衡易位的女孩的自闭症光谱障碍
Marcelo Razera Baruffi,Deise Helena de Souza,Rosana Aparecida Bicudo da Silva et al.
Marcelo Razera Baruffi et al.
Balanced X-autosome translocations are rare, and female carriers are a clinically heterogeneous group of patients, with phenotypically normal women, history of recurrent miscarriage, gonadal dysfunction, X-linked disorders or congenital abn...
Case Reports
Case reports in genetics. 2012:2012:578018. DOI:10.1155/2012/578018 2012
Prenatal Diagnosis of Cystic Hygroma related to a Deletion of 16q24.1 with Haploinsufficiency of FOXF1 and FOXC2 Genes [0.03%]
16q24.1缺失导致的FOXF1和FOXC2基因单倍体不足相关的淋巴管畸形的产前诊断
Matthew J Garabedian,Donna Wallerstein,Nubia Medina et al.
Matthew J Garabedian et al.
We report the prenatal diagnosis of cystic hygroma that was subsequently identified to have haploinsufficiency of the FOXF1 and FOXC2 genes via array comparative genomic hybridization (aCGH). Deletion o f these genes has previously neither ...
Early intervention combined with targeted treatment promotes cognitive and behavioral improvements in young children with fragile x syndrome [0.03%]
早期干预结合针对性治疗可促进脆性X综合征幼儿的认知和行为改善
Tri Indah Winarni,Andrea Schneider,Mariya Borodyanskara et al.
Tri Indah Winarni et al.
Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability due to an expansion in the full mutation range (>200 CGG repeats) of the promoter region of the FMR1 gene leading to gene silencing. Lack of FMRP, a crit...
Case Reports
Case reports in genetics. 2012:2012:280813. DOI:10.1155/2012/280813 2012
Extra Copies of der(21)t(12;21) plus Deletion of ETV6 Gene due to dic(12;18) in B-Cell Precursor ALL with Poor Outcome [0.03%]
复杂染色体异常der(21) t(12;21)额外拷贝和dic(12;18)导致ETV6基因丢失的预后不良B系前体急性淋巴细胞白血病病例报告
Marina Araújo Fonzar Hernandes,Terezinha de Jesus Marques-Salles,Hasmik Mkrtchyan et al.
Marina Araújo Fonzar Hernandes et al.
Acute lymphoblastic leukemia (ALL), CD10+ B-cell precursor, represents the most frequent type of childhood ALL from 3 to 6 years of age. The t(12;21)(p13;q22) occurs in 25% of cases of B-cell precursor ALL, it is rare in children less than ...
Case Reports
Case reports in genetics. 2012:2012:186532. DOI:10.1155/2012/186532 2012
Amino-Terminal Microdeletion within the CNTNAP2 Gene Associated with Variable Expressivity of Speech Delay [0.03%]
CNTNAP2基因氨基端微缺失与语言发育迟缓的变异临床表现相关性研究
Amel Al-Murrani,Fern Ashton,Salim Aftimos et al.
Amel Al-Murrani et al.
The contactin-associated protein-like 2 (CNTNAP2) gene is highly expressed in the frontal lobe circuits in the developing human brain. Mutations in this gene have been associated with several neurodevelopmental disorders such as autism and ...
Case Reports
Case reports in genetics. 2012:2012:172408. DOI:10.1155/2012/172408 2012