Episodic ataxia type 2 (EA 2) is a rare disorder characterized by intermittent episodes of ataxia with interictal nystagmus. The authors report a patient with EA 2, who presented with recurrent episodes of vertigo, gait ataxia and interictal downbeat nystagmus, which had developed about 16 years before. The chromosomal analysis revealed a translocation between chromosome 7 and chromosome 19 (t(7;19)). The break point in chromosome 19 was the P13 locus of the CACNA1A gene.
Ataxia* ; Chromosomes, Human, Pair 19 ; Chromosomes, Human, Pair 7 ; Gait Ataxia ; Humans ; Vertigo

OBJECTIVETo determine the karyotype of a cryptic structural abnormality and explore the mechanism of apparent chromosomal terminal deletion.

METHODSFluorescence in situ hybridization(FISH) with a whole chromosome 7 painting probe and a 7q subterminal probe (7q36-->qter), prepared by chromosome microdissection technique, was used to analyze a case with a history of spontaneous abortion and 7q terminal deletion detected by conventional G-banding technique.

RESULTSThe case was a maternal cryptic insertional translocation between chromosome region 1p32 and 7q32-->q35. The region of chromosome 7q36-->qter was not inserted in to chromosome 1, and the abnormal chromosome 7 was not a terminal deletion but an interstitial deletion.

CONCLUSIONSChromosome insertion of the terminal region retains its telomere, which is consistent with the concept of a three-break rearrangement. Interstitial deletion may be regarded as another mechanism for terminal deletion in the chromosome banding level. Combined with chromosome microdissection, FISH technique could be a powerful diagnostic tool for detecting chromosome structural abnormalities.

Adult ; Chromosome Aberrations ; Chromosomes, Human, Pair 1 ; Chromosomes, Human, Pair 7 ; Female ; Humans ; In Situ Hybridization, Fluorescence ; methods

Split hand and split foot(SHSF) is a human developmental defect characterized by missing digits, fusion of remaining digits, and a deep median cleft resulting in a clawlike appearance of the hands and feets. SHSF is usually inherited in an autosomer dominant fashion. The incidence of SHSF is between 1/10,000 and 1/90,000. Thirteen cases of SHSF and chromosomal aberrations involving 7q21-22 have been described so far in the world. We experienced a case of typical tetramelic SHSF in neonate. Chromosome studies showed a pericentric inversion of chromosome 7:46,XY,inv(7) (p22q22). Inspection of the extremities and chromosome studies in the parents were normal.
Chromosome Aberrations ; Chromosomes, Human, Pair 7* ; Extremities ; Foot* ; Hand* ; Human Development ; Humans ; Incidence ; Infant, Newborn ; Parents

OBJECTIVETo investigate molecular genetic alterations associated with primary and corresponding recurrent glioblastoma multiforme(GBM) and to identify which chromosomal regions of the whole genome may be involved in the recurrence of primary GBM.

METHODSA high-resolution allelotyping study of one patient's primary GBM and corresponding recurrent GBM was performed by PCR-based loss of heterozygosity(LOH) analysis with the use of 382 fluorescent dye-labeled polymorphic microsatellite markers covering all 22 autosomes. The mean genetic distance between two flanking markers is 10 cM.

RESULTSLOH at locus D9S157 on 9p21 and at loci D10S537, D10S185, D10S192, D10S597, D10S587, D10S217 on 10q21.3-26.3 was observed in the primary GBM. As for corresponding recurrent tumor, LOH was observed not only in expanded regions on 9p21 and 10q21.3-26.3 but also on multiple other chromosomal arms, including 1q, 7p,7q, 21q, 20p, 20q, 10p, 19p, 19q.

CONCLUSIONChromosome 9p and 10q may be involved in the development of this GBM. Although histopathological diagnoses of the primary and corresponding recurrent tumor are identical, the recurrence of GBM is characterized by an increased involvement of molecular genetic abnormalities and may be accompanied by inactivation of more tumor suppressor genes.

Adult ; Alleles ; Chromosome Mapping ; methods ; Chromosomes, Human, Pair 1 ; genetics ; Chromosomes, Human, Pair 10 ; genetics ; Chromosomes, Human, Pair 19 ; genetics ; Chromosomes, Human, Pair 20 ; genetics ; Chromosomes, Human, Pair 21 ; genetics ; Chromosomes, Human, Pair 7 ; genetics ; Chromosomes, Human, Pair 9 ; genetics ; DNA ; genetics ; Female ; Glioblastoma ; genetics ; pathology ; surgery ; Humans ; Loss of Heterozygosity ; Microsatellite Repeats ; Neoplasm Recurrence, Local

OBJECTIVETo evaluate the value of a panel fluorescence in situ hybridization (FISH) in the detection of common chromosome abnormalities in myelodysplastic syndrome (MDS).

METHODSTwenty cases of MDS patients, whose karyotypes were unknown by the FISH examiner beforehand, were analyzed with a panel FISH using YAC248F5 (5q31), YAC938G5 (7q32), CEP8 and YAC 912C3 (20q12) probes to detect the frequently occurring chromosome abnormalities (-5/5q, -/7q-, +8, 20q-) in MDS. Then the results were compared to those of conventional cytogenetics (CC).

RESULTSAmong 20 cases, 13 cases were found to carry common chromosome abnormalities by panel FISH (trisomy 8, five cases; -5/5q-, one case; 20q-, five cases; 5q- accompanying 20q-, one case; complex abnormalities, one case). However, on CC examination, only five cases were found to have common chromosomal abnormalities (20q-, four cases; 5q- accompanying 20q-, one case). In addition, trisomy 21, marker chromosome and complex abnormalities comprising -5, -7 and marker chromosomes were seen in one case each, the rest were normal.

CONCLUSIONPanel FISH is a useful tool of molecular cytogenetics in the detection of common chromosome abnormalities in MDS.

Adult ; Aged ; Aged, 80 and over ; Chromosome Aberrations ; Chromosomes, Human, Pair 20 ; genetics ; Chromosomes, Human, Pair 5 ; genetics ; Chromosomes, Human, Pair 7 ; genetics ; Chromosomes, Human, Pair 8 ; genetics ; Female ; Humans ; In Situ Hybridization, Fluorescence ; methods ; Karyotyping ; Male ; Middle Aged ; Myelodysplastic Syndromes ; genetics

OBJECTIVETo investigate global genetic alterations in medulloblastoma, and to localize critical chromosomal loci with allelic imbalances associated with the development of medulloblastoma.

METHODSA high-resolution genome-wide allelotype analysis, including 384 microsatellite markers, was performed in 12 medulloblastomas.

RESULTSAn average of 238 (62.3%) allelic imbalances were detected on all 39 autosomal arms. Non-random allelic gains or losses were detected on chromosomes 7q (58.3%), 8p (66.7%), 16q (58.3%), 17p (58.3%) and 17q (66.7%). In addition, chromosomal arms with frequencies of allelic imbalances higher than the mean percentage were identified on 3p (33.3%), 3q (33.3%), 4q (41.7%), 7p (33.3%), 8q (41.7%), 10q (41.7%), 13q (33.3%), 14q (33.3%) and 20q (33.3%). No relationship was found between the frequency of allelic imbalances and the clinical outcome of the patients.

CONCLUSIONSA global view of the genetic alterations in medulloblastoma was provided. The allelic imbalances involving chromosomes 7q, 8p, 16q, 17p and 17q may play an important role in the pathogenesis of medulloblastoma.

Adolescent ; Adult ; Alleles ; Allelic Imbalance ; Cerebellar Neoplasms ; genetics ; Child ; Child, Preschool ; Chromosomes, Human, Pair 16 ; Chromosomes, Human, Pair 17 ; Chromosomes, Human, Pair 7 ; Chromosomes, Human, Pair 8 ; Female ; Genotype ; Humans ; Male ; Medulloblastoma ; genetics ; Microsatellite Repeats ; genetics

Interstitial deletion of the long arm of the chromosome 7 is a well-defined syndrome which usually arises de novo. But there were few case reports in Korea. A male premature newborn infant that we have experienced had broad nasal bridge with bulbous nasal tip, large low-set ears, chorioretinal atrophy, hypoplasia of the aortic arch, micropenis, feeding difficuties and severe growth retardation, which are characteristic clinical features of the 7q deletion syndrome and confirmed to be a 7q-(q31qter) syndrome by chromosomal study.
Aorta, Thoracic ; Arm ; Atrophy ; Chromosomes, Human, Pair 7 ; Ear ; Humans ; Infant, Newborn ; Korea ; Male

Chromosome 7 abnormalities are the most common cytogenetic alterations found in myeloid malignancies. Myeloid malignancies exhibiting monosomy 7/del (7q) have been confirmed to associate with high susceptibility to infections, poor response to chemotherapy, and short survival time, so speculating that chromosome 7 has important tumor suppressor genes. Commonly deleted segments (such as 7q22) of chromosome 7 have been identified by FISH and other technologies. Genes (EZH2, MLL5, DOCK4, SAMD9L/SAMD9) located in commonly deleted segments of 7q have been cloned and characterized along with the advance of molecular biology.This review summaries the current advancement about myeloid malignancies associated with monosomy7/del(7q).
Chromosome Deletion ; Chromosomes, Human, Pair 7 ; Humans ; Leukemia, Myeloid ; genetics ; Myeloproliferative Disorders

Adult ; Aged ; Chromosomes, Human, Pair 7 ; genetics ; Female ; Humans ; Male ; Middle Aged ; Pedigree ; Polydactyly ; genetics

Caveolin-2, a protein about 20 kD, is a major component of the inner surface of caveolae, small invaginations of the plasma membrane. Similar with caveolin-1 and caveolin-3, it serves as a protein marker of caveolae. Caveolin-1 and -2 are located next to each other at 7q31.1 on human chromosome, the proteins encoded are co-localized and form a stable hetero-oligomeric complex, distributing similarly in tissue and cultured cells. Caveolin-3 is located on different chromosomes but confirmed to interact with caveolin-2. Caveolin-2 is similar to caveolin-1 in many respects but differs from the latter in functional domains, especially in G-protein binding domain and caveolin scaffolding domain. The mRNAs of both caveolin-1 and caveolin-2 are most abundantly expressed in white adipose tissue and are induced during differentiation of 3T3-L1 cells to adipocytes. Caveolin-2-deficient mice demonstrate clear pulmonary defects, with little or no change in caveolin-1 expression and caveolae formation, suggesting that caveolin-2 plays a selective role in lung functions. Caveolin-2 is also involved in lipid metabolism and human cancers.
Biomarkers ; metabolism ; Caveolae ; metabolism ; Caveolin 2 ; genetics ; metabolism ; Chromosomes, Human, Pair 7 ; Humans