2.Genome-wide genetic study of medulloblastoma using allelotype analysis.
Xiao-lu YIN ; Chung-Sean PANG ; Ho-Keung NG
Chinese Journal of Pathology 2004;33(5):413-415
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
3.Molecular cytogenetic analysis for a familial complex chromosomal rearrangement.
Wei-ping QIAN ; Yue-qiu TAN ; Wai-mui TJIA ; Dan SONG ; Xin-yuan GUAN ; Guang-xiu LU
Chinese Journal of Medical Genetics 2005;22(3):302-304
OBJECTIVETo determine a complex chromosomal rearrangement by advanced molecular cytogenetic techniques and analyze its clinical effect.
METHODSA complex chromosomal rearrangement (CCR) involved in chromosomes 5, 16 and 20 in a 29-year-old male carrier was determined by chromosomal microdissection and multicolor fluorescence in situ hybridization (M-FISH), and family degree investigation was further performed.
RESULTSThe karyotype of the case was a complex chromosomal translocation among chromosomes 5, 20 and 16, and accompanied with a band of chromosome 20 inserted into chromosome 5. His mother and sister both had the same abnormal karyotype by familial investigation.
CONCLUSIONThe combined use of M-FISH and chromosome microdissection is a powerful tool to determine CCR. The complex chromosomal rearrangement could be transmitted stably in the family, but still the carriers could give birth to a healthy baby by chance.
Adult ; Chromosomes, Human, Pair 10 ; genetics ; Chromosomes, Human, Pair 16 ; genetics ; Chromosomes, Human, Pair 20 ; genetics ; Chromosomes, Human, Pair 5 ; genetics ; Cytogenetic Analysis ; methods ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Male ; Pregnancy ; Translocation, Genetic
4.An Unbalanced Translocation of Chromosome 16 Associated with Multiple Congenital Anomalies.
Ji Yeon LEE ; Jae Eun YU ; Yun Hye SHIN ; Moon Sung PARK ; Jeong HONG
Journal of the Korean Society of Neonatology 2005;12(2):212-216
We present a case of de novo reciprocal unbalanced translocation of chromosome 16, [46, XX, 8p+, der(8)t(8;16)(p23;q13)enh(16)], associated with clinical features, including anal atresia, vertebral anomaly, urogenital anomaly, single umbilical artery, ventricular septal defect and bilateral sensorineural hearing losses.
Anus, Imperforate
;
Chromosomes, Human, Pair 16*
;
Hearing Loss, Sensorineural
;
Heart Septal Defects, Ventricular
;
Single Umbilical Artery
5.A Case of de Novo Interstitial Deletion 16(Q13q22).
Won Kyung SOHN ; Eun Suk YOON ; Jun YOON ; Young Kue KIM ; Kue Wook YOON ; Young Joo WOO ; Woo Young HYUN ; Dae Jun JEON
Korean Journal of Perinatology 2002;13(3):304-308
Deletion of the long arm of chromosome 16 is uncommon. The causes of deletion are two: one is unbalanced translocation and the other is de novo deletion. In our case, a baby was born with characteristics of the deletion of the long arm of chromosome 16: distinct craniofacial dysmorphism, mild hydrocephalus, ventriculoseptal defect, coarctation of aorta, short neck, low set, small and posterially rotated ears and shortening of long bones. High resolution GTG and RBG banding analyses revealed a karyotype: 46, XY, del(16)(q13q22) de novo.
Aortic Coarctation
;
Arm
;
Chromosomes, Human, Pair 16
;
Ear
;
Hydrocephalus
;
Karyotype
;
Neck
6.Genetic analysis of an individual with a fragile site at 16q22.
Minjie SHAO ; Yun WANG ; Chan TIAN ; Liping JIAO ; Ping LIU
Chinese Journal of Medical Genetics 2021;38(4):380-382
OBJECTIVE:
To analyze a patient with infertility and a fragile site found at 16q22 by using cytogenetic methods.
METHODS:
Peripheral blood sample was taken from the patient and subjected to chromosomal karyotyping and single nucleotide polymorphism microarray (SNP-array) analysis.
RESULTS:
The patient was found to be a mosaicism for a fragile site at 16q22, which has a variable morphology and cannot be induced by folic acid treatment. No abnormality was found by SNP-array analysis.
CONCLUSION
A rare fragile site, which can be induced without folic acid treatment, has been identified at 16q22. The strategy of assisted reproduction for such individuals is yet to be explored.
Chromosome Fragile Sites
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Chromosome Fragility
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Chromosomes, Human, Pair 16
;
Genetic Testing
;
Humans
;
Karyotyping
;
Mosaicism
7.Prenatally Diagnosed Uncommon Mosaic Autosomal Trisomy.
Bom Yi LEE ; So Yeon PARK ; Moon Hee LEE ; Jin Woo KIM ; Ju Yeon PARK ; Eun Young CHOI ; Yeon Woo LEE ; Ah Rum OH ; Shin Young LEE ; Min Hyung KIM ; Hyun Mee RYU
Journal of Genetic Medicine 2009;6(1):95-99
Prenatal diagnosis of rare autosome mosaicism involvingchromosomes other than chromosome 13, 18, 21 or the sex chromosome is encountered prognostic dilemma during genetic counseling. We report four cases of level III uncommon mosaicism of trisomy 5, 16 and 20,diagnosed prenatally. In case 1 with mosaic trisomy 20, there was a higher mosaic ratio of trisomy 20 in the repeat amniocentesis (62.1%) than in the first (36.6%) with normal fetal ultrasound finding except for a relatively small aorta on a 3-vessel view of the fetal heart. Case 2 showed a low rate of mosaic trisomy 20 (5.25%) in cultured amniocytes but normal karyotype in the repeat amniocentesis, who delivered a normal healthy baby. Case 3 showed a 13.6% of trisomy 16 mosaicism in the 30 cells of cultured amniocytes. Sixty cells from a fetal blood sample at termination showed non-mosaic 46,XX normal karyotype, while skin fibroblasts had 22.5% trisomy 16 in 40 metaphases. The autopsy showed ventricular septal defect (VSD). Case 4 with low grade mosaicism (10.5%) of trisomy 5 resulted in elective termination, though the ultrasoumd showed growsly normal fetus. Although level III mosaicism is regarded as true mosaicism, it is difficult to predict the outcome of the fetus with rare mosaic autosome trisomy. Therefore mosaic autosome trisomy of fetus should be carefully interpreted with more various approaches including repeat sampling and targeted fetal ultrasound.
Amniocentesis
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Aorta
;
Autopsy
;
Chromosomes, Human, Pair 13
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Chromosomes, Human, Pair 16
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Chromosomes, Human, Pair 20
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Fetal Blood
;
Fetal Heart
;
Fetus
;
Fibroblasts
;
Genetic Counseling
;
Heart Septal Defects, Ventricular
;
Karyotype
;
Metaphase
;
Mosaicism
;
Prenatal Diagnosis
;
Sex Chromosomes
;
Skin
;
Trisomy
8.Study of trisomy 22 and inversion 16 in acute myeloid leukemia.
Hui-fen ZHOU ; Jian-yong LI ; Jin-lan PAN ; Hai-rong QIU ; Li-juan CHEN ; Jie-ying HU ; Yun-feng SHEN ; Wei XU ; Yong-quan XUE
Chinese Journal of Hematology 2007;28(1):11-14
OBJECTIVETo explore the value of trisomy 22 ( +22) in the diagnosis of inv(16) acute myeloid leukemia (AML).
METHODSInterphase fluorescence in situ hybridization (FISH) was performed in 18 AML patients with +22. The probe was two-color break apart probe for CBFbeta with SpectrumRed on the centromeric side and SpectrumGreen on the telomeric side. The FISH results were compared with that of R-banding conventional cytogenetics (CC). Multiplex FISH (M-FISH) was used to analyze the relationship of +22 and inv(16).
RESULTSCC revealed inv(16) in none of the 18 AML, with +22, but FISH revealed inv (16) in 11 of them and del( 16) (q22) in one. As CC results, 9 of the 11 cases were sole +22, one complicated with trisomy 8, and one del(16) (q22). Four patients with +22 and inv(16) were analyzed by M-FISH and revealed +22 only.
CONCLUSION+22 can be regarded as an important marker for the diagnosis of inv(16) AML.
Adolescent ; Adult ; Aged ; Chromosome Inversion ; Chromosomes, Human, Pair 16 ; genetics ; Chromosomes, Human, Pair 22 ; genetics ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Leukemia, Myeloid, Acute ; genetics ; Male ; Middle Aged ; Trisomy
9.Myeloid Sarcoma of Peritoneum in Acute Myeloid Leukemia Patient with Inversion of Chromosome 16.
Ji Yoon KIM ; Byeong Kyu PARK ; Sung Hwa BAE ; Hun Mo RYOO ; Woo Jung SUNG ; A Jin LEE
Korean Journal of Medicine 2015;89(5):581-584
Myeloid sarcoma is an extramedullary myeloid neoplasm that usually involves the skin, soft tissues, and lymph nodes. Myeloid sarcoma is found in 2.5-9.1% of acute myeloid leukemia patients, usually those with t (8;21), while inv (16) is rarely associated with myeloid sarcoma. Consequently, little is known of the characteristics and incidence of inv (16) in myeloid sarcoma. Myeloid sarcoma in acute myeloid leukemia patients with inv (16) is most often found in the abdominal lesions; the intestinal tract is involved most commonly, in the form of a mass. Here, we report an unusual myeloid sarcoma presenting as peritoneal carcinomatosis in acute myeloid leukemia with inv (16) that appeared to be ascites.
Ascites
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Carcinoma
;
Chromosomes, Human, Pair 16*
;
Humans
;
Incidence
;
Leukemia, Myeloid, Acute*
;
Lymph Nodes
;
Peritoneum*
;
Sarcoma, Myeloid*
;
Skin
10.Surgical Experience of Intracranial Aneurysm in a Patient with Polycystic Kidney: Case Report.
Won HUR ; Hwa Sung PARK ; Sang Yong KIM ; Dong Yul LEE
Journal of Korean Neurosurgical Society 1995;24(12):1594-1599
Rupture of cerebral aneurysm is a significant cause of morbidity and mortality in patients with polycystic kidney. Although many authors have emphasized the relationship between these two diseases, the exact pathogenesis has yet to be identified yet. Recently a number of authors have emphasized the defect of chromosome 16 as the basis of pathogenesis of these disease. We have treated surgically a case of P2-3 junction aneurysm in a 44 year-old male with bilateral polycystic kidneys. While abdominal ultrasonograph had revealed multiple microcysts of the liver, four vessel angiographies futher revealed marked arteriosclerotic changes of cerebral arteries. The aneurysmal neck was successfully clipped through subtemporal approach resulting in good outcome. The above mentioned cases of cerebral aneurysm with polycystic kidney will be discussed with respect to its pathogenesis and treatment modality along with literature review.
Adult
;
Aneurysm
;
Angiography
;
Cerebral Arteries
;
Chromosomes, Human, Pair 16
;
Humans
;
Intracranial Aneurysm*
;
Liver
;
Male
;
Mortality
;
Neck
;
Polycystic Kidney Diseases*
;
Rupture