Chromosome Aberrations ; Chromosomes, Human, Pair 16 ; Chromosomes, Human, Pair 9 ; Humans ; Infant, Newborn ; Male

Atherosclerosis ; genetics ; Chromosomes, Human, Pair 9 ; Humans ; RNA, Long Noncoding

Split hand split foot malformation (SHFM) is a human developmental disorder characterized by a deep median cleft in the hands and feet, missing digits, and fusion of the remaining digits. The disease itself is considered to be very rare, affecting one out of 90,000 newborn babies. SHFM is genetically heterogeneous. To date, five SHFM loci have been mapped, to chromosome 2, 3, 7, 10 and X, respectively. We experienced a case of SHFM in a male neonate who had lobster-claw deformities of the hands and feet. The karyotype of his chromosome was 46,XY,inv (9) (p12q13). We report the case with the review of the associated literatures.
Chromosomes, Human, Pair 2 ; Chromosomes, Human, Pair 9* ; Congenital Abnormalities ; Foot* ; Hand* ; Human Development ; Humans ; Infant, Newborn ; Karyotype ; Male

A phenotypically normal couple was referred for cytogenetic evaluation due to three consecutive first-trimester spontaneous abortions. Chromosomal analysis from peripheral blood was performed according to standard cytogenetic methods using G-banding technique. The husband's karyotype was normal. The wife's karyotype showed a balanced complex chromosome rearrangement (CCR) involving chromosomes 9,14, and 13. There were three breakpoints: 9p21.2, 14q21, and 13q12.2. The karyotype was designated as 46, XX, t (9;14;13)(p21.2;q21; q12.2). Fluorescence in situ hybridization (FISH) analysis with chromosome-specific libraries of chromosomes 9,14, and 13 was performed to confirm this rare chromosome rearrangement. The result of FISH coincided with that obtained by standard cytogenetic techniques.
Abortion, Habitual/*genetics ; Adult ; Case Report ; *Chromosome Aberrations ; *Chromosomes, Human, Pair 13 ; *Chromosomes, Human, Pair 14 ; *Chromosomes, Human, Pair 9 ; Female ; Human ; In Situ Hybridization, Fluorescence ; Pregnancy

Child, Preschool ; Chromosomes, Human, Pair 22 ; Chromosomes, Human, Pair 8 ; Chromosomes, Human, Pair 9 ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Male ; Precursor Cell Lymphoblastic Leukemia-Lymphoma ; genetics ; Translocation, Genetic

PURPOSE: Hepatocellular carcinoma (HCC) patients are asymptomatic and the tumor remains in an unresectable state until the tumor progresses. Recently much efforts for elucidation of the early hepatocarcinogenesis have been made, and for this purpose it is very crucial to investigate the genetic abnormalities. We evaluated microsatellite alterations of five markers from chromosome 9, 13, 16 and investigated the relationships with the clinicopathological parameters in HCC. METHODS: The microsatellite alteration analysis was performed using polymerase chain reaction with five polymorphic microsatellite markers (D9S171, D9S1747, D13S156, D16S419, D16S3106) in 40 surgically resected HCCs and their respective non-tumorous counterparts. RESULTS: D9S171, D9S1747, D13S156, D16S419, D16S3106 abnormalities were detected in 20.0%, 14.3%, 50.0%, 32.4% and 22.6%, respectively. Loss of heterozygosity (LOH) of D9S171 correlated well with higher tumor histologic grade and LOH of D13S156, D16S419 and D16S3106 correlated well with increased tumor size. Microsatellite instability (MSI) was found in two markers, D13S156, D16S419. CONCLUSION: As a result, we concluded that alterations in microsatellites of various chromosomes may contribute to the hepatocarcinogenesis and tumor progression. Especially LOH of chromosome 13 and 16 are considered to correlate with tumor progression.
Carcinoma, Hepatocellular* ; Chromosomes, Human, Pair 13 ; Chromosomes, Human, Pair 9 ; Humans ; Loss of Heterozygosity ; Microsatellite Instability ; Microsatellite Repeats* ; Polymerase Chain Reaction

OBJECTIVETo determine genetic cause for a patient with development delay and multiple congenital anomalies.

METHODSRoutine karyotype analysis was performed for the patient and his parents. Array comparative genomic hybridization (array CGH) was performed for the patient to detect cryptic chromosome aberration.

RESULTSKaryotype analysis revealed no obvious anomaly for the patient and his parents. Array CGH has detected a 2.8 Mb heterozygous deletion at 9q34.3 and an 8.1 Mb heterozygous duplication at 22q. Fluorescence in situ hybridization analysis of the patient revealed an unbalanced subtelomeric translocation 46, XY, der(9) t(9; 22) (q34.3; q13.2q13.33) mat, which has resulted in partial trisomy 22q and partial monosomy 9q. Clinical features of the patient included developmental delay, facial dysmorphism and multiple congenital anomalies. Upon subsequent pregnancy, FISH analysis revealed that the fetus has inherited the normal chromosomes 9 and 22 from his mother. Postnatal follow-up confirmed normal development milestone and physiques in the child.

CONCLUSIONAn unbalanced translocation involving 9q and 22q has been found in a child featuring multiple congenital anomalies, which is due to a balanced translocation 9; 22 in his mother. Array CGH and FISH have also helped with discovery of subtelomeric rearrangement. Prenatal diagnosis of this aberration in subsequent pregnancies with FISH can prevent the recurrence of this disease.

Abnormalities, Multiple ; genetics ; Chromosomes, Human, Pair 22 ; Chromosomes, Human, Pair 9 ; Female ; Humans ; Infant ; Intellectual Disability ; genetics ; Male ; Translocation, Genetic

Chromosomes, Human, Pair 22 ; Chromosomes, Human, Pair 9 ; Humans ; Leukemia, Promyelocytic, Acute ; genetics ; Male ; Middle Aged ; Translocation, Genetic

OBJECTIVETo explore the genetics mechanism for the phenotypic variability in a patient carrying a rare ring chromosome 9.

METHODSThe karyotype of the patient was analyzed with cytogenetics method. Presence of sex chromosome was confirmed with fluorescence in situ hybridization. The SRY gene was subjected to PCR amplification and direct sequencing. Potential deletion and duplication were detected with array-based comparative genomic hybridization (array-CGH).

RESULTSThe karyotype of the patient has comprised 6 types of cell lines containing a ring chromosome 9. The SRY gene sequence was normal. By array-CGH, the patient has carried a hemizygous deletion at 9p24.3-p23 (174 201-9 721 761) encompassing 30 genes from Online Mendelian Inheritance in Man.

CONCLUSIONThe phenotypic variability of the 9p deletion syndrome in conjunct with ring chromosome 9 may be attributable to multiple factors including loss of chromosomal material, insufficient dosage of genes, instability of ring chromosome, and pattern of inheritance.

Chromosomes, Human, Pair 9 ; genetics ; Female ; Humans ; Infant ; Karyotype ; Male ; Ring Chromosomes ; Sex Chromosome Disorders ; genetics

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