Genetic factors are an important cause of functional articulation disorder in children. This article reviews some genes and chromosome regions associated with a genetic susceptibility to functional articulation disorders. The forkhead box P2 (FOXP2) gene on chromosome 7 is introduced in details including its structure, expression and function. The relationship between the FOXP2 gene and developmental apraxia of speech is discussed. As a transcription factor, FOXP2 gene regulates the expression of many genes. CNTNAP2 as an important target gene of FOXP2 is a key gene influencing language development. Functional articulation disorder may be developed to dyslexia, therefore some candidate regions and genes related to dyslexia, such as 3p12-13, 15q11-21, 6p22 and 1p34-36, are also introduced. ROBO1 gene in 3p12.3, ZNF280D gene, TCF12 gene, EKN1 gene in 15q21, and KIAA0319 gene in 6p22 have been candidate genes for the study of functional articulation disorder.
Articulation Disorders ; genetics ; Chromosomes, Human, Pair 15 ; Chromosomes, Human, Pair 3 ; Chromosomes, Human, Pair 6 ; Forkhead Transcription Factors ; genetics ; Genetic Predisposition to Disease ; Humans

The understanding of genetic factors contributed to the susceptibility or severity of rheumatoid arthritis (RA) might give new insights into the pathways involved in disease pathogenesis and lead to the identification of novel therapeutic targets. However, a lot of published case-control association studies could not demonstrate the conclusive results due to the lack of reproducibility, small sample size, poor study design, incorrect assumption, and ethnic diversity. Recently, several genome-wide scan using affected sibling pairs and following candidate gene approaches have been performed to unravel the complex association of rheumatoid arthritis with the human leukocyte antigen (HLA) gene region, non-HLA major histocompatibility region within chromosome 6, and the other chromosomes such as chromosome 1. This review summarizes the importance of genetic studies in RA, and the variable methods of genetic studies and their results.
Arthritis, Rheumatoid* ; Case-Control Studies ; Chromosomes, Human, Pair 1 ; Chromosomes, Human, Pair 6 ; Genetics ; Histocompatibility ; Humans ; Leukocytes ; Sample Size ; Siblings

The authors report three microcystic meningiomas with its characteristic immunohistochemical findings and chromosomal pattern. Three patients with surgically treated microcystic meningioma were studied for its radiological, histopathological findings, and chromosomal analysis was done in the one patient. Tumors were convexity meningioma in the frontal area. The tumors were enhanced homogenously in the two, and enhanced inhomogenously with multiple small cysts in the other one on preoperative magnetic resonance image. Pathological examination showed marked nuclear pleomorphism, many small cysts, hyaline thickening in blood vessel wall, and mucinous background, compatable to microcystic type. EMA and vimentin were positive on the immunohistochemical stain. Chromosomal analysis showed tetrasomies of chromosome 5, 13, 17, and 20, and trisomies of chromosome 6, 7, 9, 11, 12, 16, 19, and 21, which are quite different from those of benign meningioma.
Blood Vessels ; Chromosomes, Human, Pair 5 ; Chromosomes, Human, Pair 6 ; Humans ; Hyalin ; Meningioma* ; Mucins ; Tetrasomy ; Trisomy ; Vimentin

OBJECTIVETo explore the value of fluorescence in situ hybridization (FISH) and multiplex fluorescence in situ hybridization (M-FISH) techniques in the detection of genetic changes in chronic myeloid leukemia (CML) with variant Philadelphia translocation (vPh).

METHODSCytogenetic preparations from 10 CML patients with vPh confirmed by R banding were assayed with dual color dual fusion FISH technique. If only one fusion signal was detected in interphase cells, metaphase cells were observed to determine if there were derivative chromosome 9[der (9)] deletions. Meanwhile, the same cytogenetic preparations were assayed with M-FISH technique.

RESULTSOf the 10 CML patients with vPh, 5 were detected with der (9) deletions by FISH technique. M-FISH technique revealed that besides the chromosome 22, chromosomes 1, 3, 5, 6, 8, 10, 11 and 17 were also involved in the vPh. M-FISH technique also detected the abnormalities which were not found with conventional cytogenetics (CC), including two never reported abnormalities.

CONCLUSIONThe combination of CC, FISH and M-FISH technique could refine the genetic diagnosis of CML with vPh.

Adult ; Aged ; Chromosomes, Human, Pair 1 ; genetics ; Chromosomes, Human, Pair 10 ; genetics ; Chromosomes, Human, Pair 11 ; genetics ; Chromosomes, Human, Pair 17 ; genetics ; Chromosomes, Human, Pair 22 ; genetics ; Chromosomes, Human, Pair 3 ; genetics ; Chromosomes, Human, Pair 5 ; genetics ; Chromosomes, Human, Pair 6 ; genetics ; Chromosomes, Human, Pair 8 ; genetics ; Female ; Humans ; In Situ Hybridization, Fluorescence ; methods ; Karyotyping ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive ; diagnosis ; genetics ; Male ; Middle Aged ; Reproducibility of Results ; Sensitivity and Specificity ; Translocation, Genetic ; genetics ; Young Adult

OBJECTIVETo explore the relationship between the microsatellite markers on chromosome 6 and schizophrenia by linkage disequilibrium analysis.

METHODSTwenty-eight microsatellite markers on chromosome 6 were evaluated in 115 affected-sib-pair and trios families. Linkage disequilibrium analysis was conducted according to diagnostic categories, Positive and Negative Syndrome Scale (PANSS) and other clinical data by XDT and MAPMAKER/SIBS software system.

RESULTSSignificant P value (P<0.005) was found in all the four diagnostic categories. Only the locus of D6S1960 showed positive P value (P<0.05) in all the subgroups divided by PANSS scale and the age of onset.

CONCLUSIONThe area around D6S1960 in short arm of chromosome 6 may contain susceptibility gene of schizophrenia.

Age of Onset ; Chromosomes, Human, Pair 6 ; Humans ; Linkage Disequilibrium ; Microsatellite Repeats ; genetics ; Schizophrenia ; genetics

There are several cases of partial monosomy or partial trisomy derived from maternal balanced translocation, but partial monosomy 6q and partial trisomy 14q derived from maternal balanced translocation has not been reported around the world. The authors experienced a case of partial monosomy 6q and partial trisomy 14q derived from maternal reciprocal balanced translocation t (6;14) in a neonate with multiple anomalies including intrauterine growth retardation, facial and cardiac anomalies. We report the case with a brief review of associaed lieratures.
Chromosome Deletion ; Chromosomes, Human, Pair 6 ; Fetal Growth Retardation ; Humans ; Infant, Newborn ; Trisomy

OBJECTIVETo explore whether chromosomal microdeletions have a role in the pathogenesis of unexplained mental retardation (MR) and the value of fluorescence in situ hybridization (FISH) in the detection of microdeletions in MR.

METHODSSelection of patients was based on the following criteria: (1) MR with two or more of the following: dysmorphic features, prenatal growth retardation, postnatal growth abnormalities, a suggestive family history; (2) Chromosome karyotype at the level >450 bands was normal; (3) Exclusion of other identified genetic or environmental diagnosis. FISH was carried out with specific DNA probe to 47 undiagnosed MR to identify interstitial microdeletions and further screen the integrity chromosome subtelomere.

RESULTSSix cases were analyzed by FISH for special interstitial microdeletions and anomaly was found in one case with 7q11.23 deletion. Subtelomeric FISH analyses were performed in 46 patients, and two cases with a deletion of subtelomeric region of chromosome 6q and 2q respectively were identified.

CONCLUSIONChromosome microdeletions are supposed to be a significant cause of idiopathic MR, once recognizable syndromes have been excluded, FISH analyses for interstitial microdeletions and subtelomeric rearrangements are warranted in children with unexplained MR.

Chromosome Deletion ; Chromosomes, Human, Pair 2 ; genetics ; Chromosomes, Human, Pair 6 ; genetics ; Genetic Predisposition to Disease ; Humans ; In Situ Hybridization, Fluorescence ; Intellectual Disability ; genetics

OBJECTIVETo analyze the genetic cause for a child with growth retardation and mental retardation and discuss the application of array-based comparative genomic hybridization (aCGH) in its molecular genetic diagnosis.

METHODSConventional karyotyping of peripheral blood for the family was carried out. aCGH was performed to further ascertain the size and origin of the additional chromosome fragments.

RESULTSIn the trio family here, the karyotype of the father was normal, the karyotype of the mother was 46,XX, t(6;9)(q26;q21)and the proband child's was 47,XX,+der(9)?t(6;9)(q26;q21). aCGH showed that the extra chromosomal fragments originated from chromosome 9p24.3-q21.13 and the size was 78.26 Mb, and the repeat region included the 9p trisomy's clinical area. At the same time, it was confirmed that 6q26-q27 was trisomic and the fragment that related to development delay was 6.6 Mb. We determined that the proband's karyotype was 47,XX,+der(9)t(6;9)(q26;q21.13)mat finally.

CONCLUSIONThe patient's abnormal chromosome has originated from her mother with balance translocation. The duplications of 9p24.3-q21.13 and 6q26-q27 may lead to growth retardation and mental retardation. Accompanied with the cytogenetic methods, aCGH can accurately identify the origin and size of the abnormal chromosomes, contributing to the genetic analysis.

Child, Preschool ; Chromosome Disorders ; genetics ; Chromosomes, Human, Pair 6 ; genetics ; Chromosomes, Human, Pair 9 ; genetics ; Comparative Genomic Hybridization ; methods ; Female ; Humans ; Trisomy ; genetics

This study was aimed to explore the relationship of 6; 9 chromosome translocation with DEK-CAN fusion gene expression in patients with acute myeloid leukemia (AML) and its clinical significance. Chromosome specimens were prepared by routine method after short-term culture of bone marrow cells; karyotype analysis was performed by R banding technique; the expression of fusion gene DEK-CAN was analyzed by RT-nested-PCR in mononuclear cells of bone marrow or peripheral blood of 4 AML patients, for 3 patients received allo-BMT out of 4 patients the dynamic follow-up was performed. The results indicated that t (6; 9) (p23; q34) was confirmed by chromosome karyotype analysis in the four AML patients. The DEK-CAN fusion gene was found during in all four de novo, relapsed and CR patients (100%). And the expression of DEK-CAN fusion gene enhanced apparently in de novo and relapsed patients, and weakened in CR patient. DEK-CAN mRNA was found in the three patients during 1-24 months after allo-BMT. Clinical data showed 2 patients relapsed and died after CR for 1-24 months; the other two patients received allo-BMT got CR and still survive. It is concluded that DEK-CAN fusion gene is the molecular basis in pathogenesis of AML. The detection of DEK-CAN fusion gene is significant for diagnosis of AML, evaluation of curative effect, and predication of prognosis.
Acute Disease ; Adolescent ; Adult ; Child ; Chromosomes, Human, Pair 6 ; Chromosomes, Human, Pair 9 ; Female ; Humans ; Leukemia, Myeloid ; genetics ; Male ; Oncogene Proteins, Fusion ; biosynthesis ; genetics ; Translocation, Genetic ; genetics

OBJECTIVE: To make molecular diagnosis of an infant affected with severe developmental delay and multiple birth defects, assisting prenatal diagnosis for the second pregnancy. METHODS: Standard G-banded karyotyping was performed for the fetus and his parents. Single nucleotide polymorphism array (SNP array) was used to detect submicroscopic chromosomal aberration. Fluorescence in situ hybridization (FISH) was employed to determine the parental origin of the aberration. RESULTS: Both the proband and the fetus harbored a 5.4 Mb distal 4p deletion and a 6.9 Mb distal 6q duplication. FISH confirmed that the mother has carried a balanced translocation involving 4p and 6q. CONCLUSION The unbalanced chromosomal aberration in the proband and the fetus were both derived from the mother. Both patients showed a Wolf-Hirschhorn syndrom phenotype and partial phenotype of 6q trisomy. SNP array combined with FISH are essential for the detection of cryptic chromosomal aberrations which may be missed by coventional karyotyping analysis.
Chromosomes, Human, Pair 4 ; genetics ; Chromosomes, Human, Pair 6 ; genetics ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Infant ; Karyotyping ; Male ; Pedigree ; Pregnancy ; Prenatal Diagnosis ; Translocation, Genetic ; Wolf-Hirschhorn Syndrome ; genetics