Chromosomes, Human, Pair 22 ; Humans ; Infant, Newborn ; Male ; Trisomy ; pathology

Chromosomes, Human, Pair 22 ; Humans ; Infant, Newborn ; Male ; Trisomy

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

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 8 ; Humans ; Male ; Middle Aged ; Multiple Myeloma ; genetics ; Translocation, Genetic

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

Chromosomes, Human, Pair 22 ; Chromosomes, Human, Pair 8 ; Humans ; Myeloproliferative Disorders ; Receptor, Fibroblast Growth Factor, Type 1 ; Translocation, Genetic

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

Here, we report on a rare case of a giant invasive sacral schwannoma. The patient was a 58-year-old woman who had a 6-year history of non-specific buttock pain. Histological investigation confirmed the diagnosis of cellular schwannoma. The following numerical aberration was detected using the GTG-banding method for karyotypes: 47,XX,-14,+18,+22. Cytogenetic studies of schwannomas have indicated a complete or partial loss of chromosome 22 as the most common abnormality, but this case is cytogenetically rare because of the recurrence of trisomy 22.
Buttocks ; Chromosomes, Human, Pair 22 ; Cytogenetics ; Female ; Humans ; Middle Aged ; Neurilemmoma ; Recurrence ; Sacrum ; Trisomy

Trisomy 22 is a frequent finding in spontaneous abortion. However, survival to term is tenuous. So far there have been about 85 cases of trisomy 22. Most of all cases, trisomy 22 was result of 3:1 meiotic segregation in the maternal 11;22 translocation carrier. These patients have a supernumerary, abnormal chromosome 22 [der(22)], in their chromosome constitution: 47,XX(or XY),+der(22),t(11q;22q). Affected children have a distinct phenotype with multiple anomalies and severe mental retardation. We now report a viable case of 47,XX,+der(22)t(11;22)(q25;q13.1) resulting from 3:1 segregation in paternal translocation.
Abortion, Spontaneous ; Child ; Chromosomes, Human, Pair 22 ; Constitution and Bylaws ; Female ; Humans ; Intellectual Disability ; Phenotype ; Pregnancy ; Trisomy*