Child ; Chromosomes, Human, Pair 14 ; Drug Resistant Epilepsy ; drug therapy ; genetics ; Humans ; Male ; Ring Chromosomes

OBJECTIVETo report on the first case with chromosome 14q12 triplication involving the FOXG1 gene.

METHODSThe clinical, radiological and array-based comparative genomic hybridization (aCGH) data of a patient was analyzed, in addition with a literature review.

RESULTSThe 9-year-old girl has suffered from severe psychomotor delay, infantile spasms, severe mental retardation, absent language, autistic spectrum disorders, impaired ambulation, poor functional hand use and microcephaly, which were considered as manifestation of FOXG1 related diseases. Magnetic resonance imaging has documented heterotopic gray matter changes. aCGH showed a 1.9 Mb triplication in the 14q12 region, which involved the FOXG1 and a predicted gene 14orf23.

CONCLUSIONFor patients with early-onset severe psychomotor retardation, epilepsy, microcephaly, severe cognitive impairment and encephalodysplasia, analysis of copy number variations and mutations of the FOXG1 gene is crucial for the diagnosis.

Autism Spectrum Disorder ; genetics ; Child ; Chromosomes, Human, Pair 14 ; Comparative Genomic Hybridization ; DNA Copy Number Variations ; Female ; Forkhead Transcription Factors ; genetics ; Humans ; Intellectual Disability ; genetics ; Magnetic Resonance Imaging ; Microcephaly ; genetics ; Nerve Tissue Proteins ; genetics

Objective: To explore the relationship between the clinical and genetic features of a short-statured azoospermia male with the karyotype of 45,X. METHODS: Using GTG-banded chromosome analysis, we performed karyotyping for a 150 cm-high infertile male with azoospermia and investigated the presence and location of the genes on the Y chromosome by FISH and PCR. RESULTS: GTG-banded chromosome analysis showed the karyotype of the patient to be 45,X,add(14)(p11). The results of PCR manifested the deletion of AZFa, AZFb, AZFc, and AZFd in the SRY gene. FISH revealed the translocation of the short arm of the Y chromosome to that of chromosome 14 and deletion of most proportions of its long arm, with the disruption site close to the centromere region. The karyotype of the patient was 45,X,der(Y)t(Y;14)(q11;q11.2), 14.ish (SRY+, CEP Y+ , DYZ1－). CONCLUSIONS The karyotype of the patient was unbalanced Y/14 translocation. The SRY gene is the key to maleness. The deletion of AZFa－ d induces spermatogenic disturbance, and the deletion of the q arm of the Y chromosome may be related with short stature.
Azoospermia ; genetics ; Chromosome Banding ; Chromosome Deletion ; Chromosomes, Human, Pair 14 ; genetics ; Chromosomes, Human, Y ; genetics ; Gonadal Dysgenesis ; genetics ; Humans ; Infertility, Male ; genetics ; Karyotyping ; methods ; Male ; Polymerase Chain Reaction ; SOXB1 Transcription Factors ; genetics ; Translocation, Genetic ; genetics

OBJECTIVETo analyze a child with mental retardation, growth retardation and language development disorders.

METHODSConventional G-banding analysis was performed on chromosomes cultivated from peripheral blood samples derived from the child and her parents. Array-comparative genomic hybridization (aCGH) was performed to detect minor structural chromosomal abnormalities, and the result was confirmed by short tandem repeats (STR) analysis.

RESULTSFor the child and her parents, no karyotypic abnormality was detected. However, aCGH analysis has identified a 14q22.1 deletion in the child. The microdeletion, with a size of 2.9 Mb was confirmed by STR analysis.

CONCLUSIONThe 2.9 Mb chromosomal microdeletion probably underlies the mental retardation, growth retardation and language development disorders in the child.

Abnormalities, Multiple ; genetics ; Child, Preschool ; Chromosome Deletion ; Chromosomes, Human, Pair 14 ; Comparative Genomic Hybridization ; Female ; Humans ; Microsatellite Repeats ; Phenotype

No abstract available.
Abnormalities, Multiple/*genetics/pathology ; *Chromosomes, Human, Pair 14 ; Clubfoot/*genetics/pathology ; Female ; Gene Duplication ; Heart Defects, Congenital/*genetics/pathology ; Humans ; Infant, Newborn ; Karyotype ; Oligonucleotide Array Sequence Analysis

OBJECTIVETo study the clinical features and diagnosis of 7 patients with atypical mantle cell lymphoma (MCL).

METHODSThe 7 MCL patients were misdiagnosed as chronic lymphocytic leukemia (CLL) due to a score of 4 for their immunophenotypes. The clinical features and diagnosis of such patients were retrospectively analyzed.

RESULTSSix patients had superficial lymphadenectasis but their lymph nodes could not be palpated. All 7 patients were as stage IV considering bone marrow infiltration. Scores of immunophenotype of CLL were 4, and interphase fluorescence in situ hybridization (FISH) for t(11;14) were positive in all patients.

CONCLUSIONSome MCL patients have clinical features similar to CLL. Interphase FISH can play an important role in the diagnosis of MCL.

Aged ; Chromosomes, Human, Pair 11 ; genetics ; Chromosomes, Human, Pair 14 ; genetics ; Female ; Humans ; In Situ Hybridization, Fluorescence ; methods ; Lymphoma, Mantle-Cell ; diagnosis ; genetics ; Male ; Middle Aged ; Translocation, Genetic

PURPOSE: The incidence and clinical correlation of MALT1 translocation and chromosomal numerical aberrations in Korean patients with ocular adnexal mucosa associated lymphoid tissue (MALT) lymphoma have not yet been reported. We investigated the incidence and clinicopathologic relationship of these chromosomal aberrations in ocular adnexal MALT lymphomas in a Korean population. METHODS: Thirty ocular adnexal MALT lymphomas were investigated for the t(11;18) API2-MALT1, t(14;18) IgH-MALT1 translocations and chromosomes 3 and 18 aneuploidies using fluorescence in situ hybridization. Patient medical records were reviewed retrospectively for information on demographics and clinical characteristics, including treatment response. RESULTS: The MALT1 gene rearrangement was found in one out of 30 cases. The t(14;18) IgH-MALT1 translocation was demonstrated in only one case (3.3%), and the t(11;18) API2-MALT1 translocation was not found in any of the cases. Trisomy 3 was observed in three ocular adnexal MALT lymphomas (10.0%), and five cases showed trisomy 18 (16.7%). Translocation positive cases also showed trisomy 18. One case of tumor relapse showed trisomy 18 only in the recurrent biopsies. There were no statistically significant correlations between chromosomal aberrations and clinical characteristics and treatment responses. CONCLUSIONS: Translocations involving the MALT1 gene are not common in Korean ocular adnexal MALT lymphomas. The t(14;18) translocation was detected in only one out of 30 cases, and the t(11;18) translocation was not found at all. Furthermore, the chromosomal aberrations found in this study had no prognostic implications.
Adult ; Aged ; *Chromosome Aberrations ; *Chromosomes, Human, Pair 14 ; Chromosomes, Human, Pair 18/*genetics ; Eye Neoplasms/diagnosis/epidemiology/*genetics ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Incidence ; Lymphoma, B-Cell, Marginal Zone/diagnosis/epidemiology/*genetics ; Male ; Middle Aged ; Republic of Korea/epidemiology ; Translocation, Genetic ; Young Adult

OBJECTIVETo identify the candidate chromosomal region for congenital preauricular fistula (CPF) through analysis of an affected Chinese family.

METHODSConventional linkage analysis using short tandem repeats (STR) markers was performed to investigate three chromosomal regions 8q11.1-q13.3, 1q32-q34.3 and 14q31.1-q31.3.

RESULTSNone of 16 STRs could attain a LOD score of more than -2.0 (theta=0). Therefore, the three regions were all excluded as the candidate region for the disease.

CONCLUSIONCPF features high genetic heterogeneity. The family may have a causative gene elsewhere. Whole-genome-based study is needed to identify its genetic etiology.

Adult ; Asian Continental Ancestry Group ; genetics ; China ; Chromosomes, Human, Pair 1 ; genetics ; Chromosomes, Human, Pair 14 ; genetics ; Chromosomes, Human, Pair 8 ; genetics ; Craniofacial Abnormalities ; genetics ; Female ; Humans ; Lod Score ; Male ; Microsatellite Repeats ; Pedigree

No abstract available.
Adolescent ; Ataxia Telangiectasia/*genetics ; Ataxia Telangiectasia Mutated Proteins/*genetics ; Base Sequence ; Chromosome Inversion ; Chromosomes, Human, Pair 14/genetics ; Chromosomes, Human, Pair 7/genetics ; DNA Mutational Analysis ; Female ; Humans ; Karyotyping ; Magnetic Resonance Imaging ; Mutation ; RNA Splicing ; Translocation, Genetic

BACKGROUND: We reviewed patients with multiple myeloma (MM) in order to assess the incidence of genetic abnormalities and their associations with clinical parameters, risk groups, and prognosis. METHODS: A total of 130 patients with MM were enrolled. The incidences of genetic abnormalities were determined in all patients. The relationships of the genetic abnormalities and clinical parameters were investigated. In addition, a survival analysis was performed. RESULTS: Abnormal karyotypes were detected in 42.3% (N=55) of the patients, and this was increased to 63.1% (N=82) after including the results determined with interphase FISH. Hypodiploidy was observed in 7.7% (N=10) of the patients, and all were included in the group with complex karyotypes (30.8%, N=40). The 14q32 rearrangements were detected in 29.2% (N=38) of the patients, and these most commonly included t(11;14), which was followed by t(4;14) and t(14;16) (16.2%, 11.5%, and 0.8%, respectively). Abnormal karyotypes and complex karyotypes were associated with disease progression markers, including low hemoglobin levels, low platelet counts, high plasma cell burden, high beta2-microglobulin, and high international staging system stages. A high free light chain (FLC) ratio and FLC difference were associated with abnormal karyotypes, complex karyotypes, and higher plasma cell burden. Hypodiploidy and low platelet counts were significant independent prognostic factors and were more important in patient outcome than any single abnormality. CONCLUSIONS: Genetic abnormalities were associated with disease progression markers and prognosis of MM patients.
Aged ; *Chromosome Aberrations ; Chromosomes, Human, Pair 14 ; Female ; Hemoglobins/analysis ; Humans ; Karyotyping ; Male ; Middle Aged ; Multiple Myeloma/*diagnosis/*genetics/mortality ; Neoplasm Staging ; Platelet Count ; Prognosis ; Proportional Hazards Models ; Survival Analysis ; Translocation, Genetic