Cytogenetic studies have shown that human chromosomes 1, 9, and 16, with a large heterochromatic region of highly methylated classical satellite DNA, are prone to induction of chromatid breaks and interchanges by mitomycin C (MMC). A couple of studies have indicated that material from chromosome 9, and possibly also from chromosomes 1 and 16, are preferentially micronucleated by MMC. Here, we further examined the chromosome-specific induction of micronuclei (MN; with and without cytochalasin B) and chromosomal aberrations (CAs) by MMC. Cultures of isolated human lymphocytes from two male donors were treated (at 48 h of culture, for 24 h) with MMC (500 ng/ml), and the induced MN were examined by a pancentromeric DNA probe and paint probe for chromosome 9, and by paint probes for chromosomes 1 and 16. MMC increased the total frequency of MN by 6-8-fold but the frequency of chromosome 9 -positive (9+) MN by 29-30-fold and the frequency of chromosome 1 -positive (1+) MN and chromosome 16 -positive (16+) MN by 12-16-fold and 10-17-fold, respectively. After treatment with MMC, 34-47 % of all MN were 9+, 17-20 % 1+, and 3-4 % 16+. The majority (94-96 %) of the 9+ MN contained no centromere and thus harboured acentric fragments. When MMC-induced CAs aberrations were characterized by using the pancentromeric DNA probe and probes for the classical satellite region and long- and short- arm telomeres of chromosome 9, a high proportion of chromosomal breaks (31 %) and interchanges (41 %) concerned chromosome 9. In 83 % of cases, the breakpoint in chromosome 9 was just below the region (9cen-q12) labelled by the classical satellite probe. Our results indicate that MMC specifically induces MN harbouring fragments of chromosome 9, 1, and 16. CAs of chromosome 9 are highly overrepresented in metaphases of MMC-treated lymphocytes. The preferential breakpoint is below the region 9q12.

Diffuse villous hyperplasia of the choroid plexus (DVHCP) and choroid plexus papilloma (CPP) are rare benign tumors usually diagnosed as a result of progressive hydrocephalus, especially in childhood. We present the case of a Japanese boy diagnosed with progressive hydrocephalus due to DVHCP.
Case: A 2-year and 3-month-old Japanese boy was found to have delayed motor development (equivalent to 1 year and 2 months old), an enlarged head circumference of 51 cm within + 1.5 standard deviation (S.D.), and incomplete closure of the anterior fontanel. The magnetic resonance imaging (MRI) showed lobular enlargement of the bilateral choroid plexuses extending from the trigone to the body and inferior horn of the lateral ventricle. The endoscopic choroid plexus coagulation surgery was performed to reduce the CSF formation rate.
DVHCP was diagnosed both pathologically and clinically. Postoperatively, the patient progressed without complications, such as cerebrospinal fluid leakage. Although ventricular enlargement persisted, the anterior fontanel recessed, and the expansion of the head circumference stopped.
Few cases of bilateral DVHCP and CPP have been reported in the literature. We encountered a case in which effective choroid plexus coagulation was performed for hydrocephalus due to DVHCP using less invasive endoscopic technique. It also represented an association between DVHCP and the gain of chromosome 9p.

Evidence suggests that the pericentric inversion of chromosome 9 (inv(9)) does not affect the aneuploidy rate (38.5%) after IVF. Herein, we report a successful live female twin birth through IVF/ICSI with a high aneuploidy rate from a couple within which the infertile father has inv(9)(p12q13). A couple (a 34-year-old male and a 35-year-old female) was referred to our clinic due to infertility. The wife has a child with her previous husband. Results from the infertility workup of both parents were normal. Karyotyping revealed that the inv(9)(p12q13) of the father was the only cytogenetic abnormality. Preimplantation genetic testing for aneuploidies (PGT-A) after IVF/ICSI revealed a high aneuploidy rate (77%; 10/13). Two euploid blastocysts were transferred, resulting in a successful live female twin birth. The presented case highlights the possibility that inv(9)(p12q13) in males may impact the fertility and euploidy rate. PGT-A facilitates the selection of qualified blastocysts for the optimization of live-birth outcomes.

Dicentric (7;9)(p11-13;p11) is a rare but recurrent abnormality in pediatric and adult precursor B acute lymphoblastic leukemia (B-ALL). The rarity precludes a deep understanding of its biology and associated prognosis. However, recent findings have correlated dic(7;9) and PAX5 mutations, highlighting this cytogenetic event\'s involvement in leukemogenesis and may also shed light on the overall prognosis of dic(7;9) B-ALL.

The genetic admixture of Caribbean Hispanics provides an opportunity to discover novel genetic factors in Alzheimer disease (AD). We sought to identify genetic variants for AD through a family-based design using the Puerto Rican (PR) Alzheimer Disease Initiative (PRADI). Whole-genome sequencing (WGS) and parametric linkage analysis were performed for 100 individuals from 23 multiplex PRADI families. Variants were prioritized by minor allele frequency (<0.01), functional potential [combined annotation dependent depletion score (CADD) >10], and co-segregation with AD. Variants were further ranked using an independent PR case-control WGS dataset (PR10/66). A genome-wide significant linkage peak was found in 9p21 with a heterogeneity logarithm of the odds score (HLOD) >5.1, which overlaps with an AD linkage region from two published independent studies. The region harbors C9orf72, but no expanded repeats were observed in the families. Seven variants prioritized by the PRADI families also displayed evidence for association in the PR10/66 (p < 0.05), including a missense variant in UNC13B. Our study demonstrated the importance of family-based design and WGS in genetic study of AD.

Currarino syndrome is a rare set of congenital anomalies that include partial sacral agenesis, anorectal anomalies, presacral mass, urogenital malformation, and fistula between pelvic structures. We present a case of a 4-year and 10-month-old boy with incomplete Currarino syndrome, who was born with anus atresia, rectovesical fistula, and permanent perimembranous VSD. At the age of 3, he was diagnosed with neurogenic bladder and sacrococcygeal agenesis. Early psychomotor development was normal. Cytogenetic GTG-banding test confirmed a male karyotype 46, XY with high heterochromatin in chromosome 9, without mutation of the MNX 1 gene (chromosome 7q36). This genetic analysis is a result of \"de novo mutation\" or it is the disorder of DNA methylation. Further genetics analyses like whole-exome sequencing - WES should have been preformed if the test had been availble. The existence of Currarino syndrome should be suspected among the children born with anorectal malformation. Prompt diagnosis with multidisciplinary monitoring improves the care and quality of life of the patient, reduces morbidity and mortality.

Hyperplasia of the choroid plexus represents a rare cause of communicating hydrocephalus in children. Recent work has associated such disease with genetic abnormalities (such as perturbations in chromosome 9). Given such extensive cerebrospinal fluid (CSF) overproduction, patients with choroid plexus hyperplasia often fail CSF diversion and therefore require adjuvant interventions.
We present the case of a male infant with a ventriculoperitoneal shunt and radiographic choroid hyperplasia who presented to our institution with a massive abdominal hydrocele caused by an inability to absorb the significant amount of CSF drainage into the abdomen.
The child was treated with an endoscopic third ventriculostomy and choroid plexus coagulation; however, he still required CSF diversion via a ventriculoatrial shunt. A genetic workup showed tetraploidy of chromosome 9. We discuss criteria for selection of treatment strategies, including endoscopic third ventriculostomy with choroid plexus coagulation and/or CSF diversion, that may prevent the need for re-operation in select patients with hydrocephalus due to choroid plexus hyperplasia.

Previous studies indicated that chromosome 9 translocations are involved in reduced male fertility and increased chance of miscarriage in the female partner. The aim of this study was to review the clinical features and genetic counselling requirements of infertile men carrying chromosome 9 translocations. This study analyzed fertile-age male carriers of chromosome 9 translocations, and included 12 clinical cases in our hospital. In our cases, three cases had oligozoospermia or severe oligozoospermia, while nine cases had normal semen. Of the latter nine cases, seven were associated with recurrent spontaneous abortions, and two produced a phenotypically normal child as confirmed by amniocentesis. Male chromosome 9 translocations and specific breakpoints from reported papers were searched using PubMed and CNKI database. A literature review identified 76 male patients who carried chromosome 9 translocations. Breakpoints at 9p12, 9p11, 9p10 and 9q34.1 were related to pregestational infertility, while breakpoints at 9p21, 9q10, 9q11, 9q13, 9q21.1, 9q22, 9q22.2, 9q22.3, 9q34, 9q34.2 and 9q34.3 exhibited gestational infertility. Chromosome translocations involving chromosome 9 lead to increased risk of miscarriage. Carriers of chromosome 9 translocations should be counselled to consider in vitro fertilization accompanied by preimplantation genetic diagnosis.

Clear-cell renal cell carcinoma (ccRCC) is one of the most common malignancies in humans and is usually associated with poor outcomes. Cancers are considered to be genetic diseases. Therefore, a better understanding of genetic alterations that are related to disease progression or poor prognosis can help to more precisely identify high-risk patients and treat them more effectively. The aim of this study was to examine the frequency of whole chromosome 9 loss (monosomy of chromosome 9) and its prognostic value in patients with ccRCC.
Single nucleotide polymorphism-based chromosome microarray (CMA) analysis was performed on 103 resected specimens from patients with ccRCC who had undergone partial or radical nephrectomy between January 2002 and March 2017 at Fox Chase Cancer Center. Monosomy 9 was correlated with clinicopathologic parameters and recurrence-free survival.
Chromosome 9 loss was detected in 31 (30%) of 103 tumors. Tumors with chromosome 9 loss had higher histologic grade (3 and 4; P < .001) and pathologic stage (P < .001). In 59 patients with non-metastatic ccRCC, chromosome 9 loss was also associated with higher recurrence rate and shorter recurrence-free survival (RFS) (12-month RFS, 77.8%; 95% confidence interval, 36.5%-93.9% for chromosome 9 loss vs. 95.7%; 95% confidence interval, 84.0%-98.9% for no loss; P = .002).
Chromosome 9 loss was found in 30% of patients with ccRCC and correlated with higher grade, advanced stage, and shorter RFS in patients with Stage I to III ccRCC.

OBJECTIVE: Gene-dietary patterns may contribute to determining body composition and related biochemical indices. The aim of this study was to evaluate interactions between rs1333048 polymorphism and major dietary patterns on body fat percentage, general and central obesity, and related biochemical measurements.
METHODS: This cross-sectional study was conducted on 265 healthy Tehrani adults with mean age of 35 years (47.5% men, 52.5% women). Dietary patterns (DPs) were extracted by factor analysis. Bioelectrical impedance analysis was used for body analysis and rs1333048 was genotyped by the restriction fragment length polymorphism (PCR-RFLP) method.
RESULTS: Three DPs were extracted: restricted refined grains DP, legumes DP and healthy DP. AA genotype compared to CC genotype had greater odds for general obesity before (OR 3.14; 95% CI 1.008-9.60, P = 0.045) and after (OR 3.11; 95% CI 1.008-9.60, P = 0.048) adjusting for potential confounders. Individuals with AA genotype were more likely to be centrally obese before (OR 2.09; 95% CI 1.006-4.35, P = 0.048) and after (OR 2.63; 95% CI 1.12-6.17, P = 0.026) controlling for potential confounders. Significant interactions were observed between Legumes DP and rs1333048 SNP on waist circumference (P = 0.047), body fat % (BFP) (P = 0.048), hs-Crp (P = 0.042), BMI (P = 0.073), WHtR (P = 0.063) and odds for general obesity (P = 0.051). Following this DP reduced all these items for individuals with CC genotype, whereas increased them for people who carry CA or AA genotypes.
CONCLUSIONS: The findings indicate that there are significant associations between AA genotype of rs1333048 SNP and general and central obesity, and significant interaction between alleles of this SNP and major dietary patterns on the odds of general obesity, BFP, waist circumference, BMI, WHtR and hs-Crp.