1.Variant Philadelphia Chromosome Identified by Interphase Fluorescence In Situ Hybridization (FISH) without Evidence on G-banded Karyotyping and Metaphase FISH.
Mi Kyung KIM ; Yeung Chul MUN ; Chu Myong SEONG ; Wha Soon CHUNG ; Jungwon HUH
The Korean Journal of Laboratory Medicine 2010;30(6):711-717
A variant Philadelphia chromosome (Ph) is generated from translocation of one or more partner chromosomes in addition to chromosomes 9 and 22. We have described the cases of 2 patients bearing variant Ph detected by interphase FISH but not detected by G-banded karyotyping and metaphase FISH. FISH was performed using BCR/ABL dual color dual fusion translocation probes (Abbott Molecular, USA). A 52-year-old man was diagnosed with acute leukemia of mixed phenotype. G-banded karyotyping showed 46,XY,t(9;22)(q34;q11.2)[12]/47,idem,+der(22)t(9;22)[5]/46,XY[3]. Interphase FISH revealed nuc ish(ABL1,BCR)x3(ABL1 con BCRx2)[329/450]/(ABL1,BCR)x4(ABL1 con BCRx3)[5/450]/(AL1,BCR)x3(ABL1 con BCRx1)[44/450]. Metaphase FISH showed ish (9;22)(ABL1+,BCR1+;BCR+,ABL+)[22]/der(22)(BCR+,ABL1+)[3]. The other case was that of a 31-yr-old male patient diagnosed with CML in the blastic phase. G-banded karyotyping of all 20 metaphase cells showed 47,XYYc,dup(1)(q21q32),del(7)(p11.2),t(9;22)(q34;q11.2). Interphase FISH revealed nuc ish(ABL1,BCR)x3(ABL1 con BCRx2)[254/600]/(ABL1,BCR)x3(ABL1 con BCRx1)[191/600]. Metaphase FISH showed ish t(9;22)(ABL1+,BCR+;BCR+,ABL1+)[16]. These results suggest that typical t(9;22) and variant Ph may coexist in the same patient, and interphase FISH may facilitate the detection of the variant Ph that cannot be detected by G-banded karyotyping alone.
Adult
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Chromosomes, Human, Pair 22
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Chromosomes, Human, Pair 9
;
Humans
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In Situ Hybridization, Fluorescence/*methods
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Interphase
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Karyotyping
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Leukemia/diagnosis/genetics
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Leukemia, Myelogenous, Chronic, BCR-ABL Positive/diagnosis/genetics
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Male
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Metaphase
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Middle Aged
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Phenotype
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*Philadelphia Chromosome
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Translocation, Genetic
4.Ring 22 chromosome syndrome induced azoospermia: a case report and literature review.
Yan-Wei SHA ; Lu DING ; Yue-Qiang SONG ; Yun-Sheng GE ; Huan ZENG ; Ping LI
National Journal of Andrology 2012;18(12):1111-1114
OBJECTIVETo investigate the clinical phenotype and genetic characteristics of an azoospermia patient with ring 22 chromosome syndrome.
METHODSWe analyzed the clinical data of an azoospermia patient with ring 22 chromosome syndrome and reviewed relevant literature.
RESULTSThe patient was a short 29-year-old male, with bilateral testes small in size and soft in texture. Seminal examination indicated azoospermia. Chromosome analysis showed the karyotype of the patient to be 46, XY, r (22) (p11, q25). The level of testosterone was low, and the testicular tissue was brittle and easy to break. Pathological microscopy revealed reduced number of Sertoli cells and germ cells in the seminiferous tubules and thinner layers of cells. All the germ cells were spermatogonia. Neither spermatocytes nor sperm cells were found, which suggested complete spermatogenic failure. Mild interstitial fibrosis was visible in part of the seminiferous tubule walls.
CONCLUSIONPatients with ring 22 chromosome syndrome usually represent normal clinical phenotypes. However, this kind of genetic abnormality often induces severe testicular damage and spermatogenic arrest, which may result in azoospermia.
Adult ; Azoospermia ; etiology ; genetics ; Chromosomes, Human, Pair 22 ; Humans ; Male ; Oligospermia ; Ring Chromosomes ; Spermatogenesis ; Spermatogonia ; Syndrome
5.Unbalanced subtelomic rearrangement involving 9q and 22q in a child with mental retardation and multiple congenital anomalies.
Bing XIAO ; Ya XING ; Xing JI ; Yan XU ; Lin NI ; Yue ZHU ; Jiong TAO
Chinese Journal of Medical Genetics 2013;30(6):666-669
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
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