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1.
Article in Chinese | WPRIM | ID: wpr-928378

ABSTRACT

OBJECTIVE@#To explore the genetic basis of three children with unexplained developmental delay/intellectual disability (DD/ID).@*METHODS@#Peripheral blood samples were collected from the patients and subjected to chromosomal microarray analysis (CMA).@*RESULTS@#Patient 1 was found to harbor a 190 kb deletion at 9q34.3, which encompassed most of EHMT1 (OMIM 607001), the key gene for Kleefstra syndrome (OMIM 610253). Patients 2 and 3 were siblings. CMA showed that they have shared four chromosomal copy number variations (CNVs) including a deletion at 9q34.3 which spanned 154 kb and 149 kb, respectively, and encompassed the EHMT1 and CACNA1B (OMIM 601012) genes. The remaining 3 CNVs were predicted to be with no clinical significance.@*CONCLUSION@#Microdeletions at 9q33.4 probably underlay the pathogenesis of DD/ID in the three children, for which EHMT1 may be the key gene.


Subject(s)
Child , Chromosome Deletion , Chromosomes, Human, Pair 9 , Craniofacial Abnormalities/genetics , DNA Copy Number Variations , Developmental Disabilities/genetics , Heart Defects, Congenital , Humans , Intellectual Disability/genetics
2.
Article in Chinese | WPRIM | ID: wpr-879583

ABSTRACT

OBJECTIVE@#To analyze the clinical and genetic features of three patient diagnosed with Kleefstra syndrome.@*METHODS@#Whole exome sequencing (WES) was carried out for the probands and their parents. Suspected variants were validated by Sanger sequencing. Copy number variations (CNV) were detected by CNV-seq and validated by real-time PCR.@*RESULTS@#Proband 1 was found to carry a de novo heterogeneous variant (c.823+1G>T) of the EHMT1 gene, which may affect its expression. Based on the guidelines of the American College of Medical Genetics and Genomics, the variant was predicted to be pathogenic (PVS1+PS2+PM2). Proband 2 was found to carry a de novo missense variant c.439C>G (p.L147V) of the EHMT1 gene, which was predicted to be likely pathogenic (PS2+PM1+PM2+PP3). Proband 3 was found to carry a heterozygous 520 kb deletion at 9q34.3 by CNV-seq. The deletion has encompassed the whole of the EHMT1 gene. Real-time PCR has detected no CNV of this region in her parents.@*CONCLUSION@#Variants of the EHMT1 gene probably underlay the disease in these patients. Genetic testing has provided a basis for their clinical diagnosis.


Subject(s)
Chromosome Deletion , Chromosomes, Human, Pair 9 , Craniofacial Abnormalities , DNA Copy Number Variations , Female , Genetic Testing , Heart Defects, Congenital , Humans , Intellectual Disability/genetics , Mutation
3.
Article in Chinese | WPRIM | ID: wpr-921976

ABSTRACT

OBJECTIVE@#To perform prenatal diagnosis, pedigree analysis, and genetic counseling of a pregnant woman who gave birth to a child with Kleefstra syndrome.@*METHODS@#Karyotype analysis, chromosomal microarray analysis (CMA), multiplex ligation-dependent probe amplification (MLPA) and fluorescence in situ hybridization (FISH) were used of peripheral blood and amniotic fluid to find causes. Recurrence risk assessment was performed later.@*RESULTS@#The amniotic fluid sample showed a 9q34.3 microduplication of arr (hg19) 9q34.3 (140 168 806-141 020 389)× 3, which overlapped the 9q34.3 microdeletion region of proband. The pregnant woman was detected with a balanced translocation of ish, t(9;17)(9q34.3; qter) (9p+; 17p+,9q+, 17q+). No other abnormal results were found in the family.@*CONCLUSION@#Offspring who share the same chromosome segment deletion or duplication are always from parent who carries balanced chromosomal structural aberration.


Subject(s)
Chromosome Aberrations , Chromosome Deletion , Chromosomes, Human, Pair 9/genetics , Female , Genetic Testing , Humans , In Situ Hybridization, Fluorescence , Pregnancy
4.
Arch. argent. pediatr ; 117(5): 473-476, oct. 2019. ilus, tab
Article in English, Spanish | LILACS, BINACIS | ID: biblio-1054965

ABSTRACT

La trisomía del 9p se caracteriza por la duplicación de todo o de algún segmento del brazo corto del cromosoma 9. Es una de las anomalías autosómicas estructurales más frecuentes en recién nacidos. Esta región es relativamente pobre en genes, por lo que puede ser más compatible con la supervivencia. Se caracteriza por presentar retraso del crecimiento, psicomotor y mental, dismorfias cráneo-faciales, alteraciones esqueléticas, así como anomalías en el sistema nervioso central, cardiopatías congénitas y alteraciones renales en menor frecuencia. Para realizar el diagnóstico, debe desarrollarse el estudio citogenético mediante la técnica de banda G, y, si está disponible, se recomienda la hibridación por fluorescencia in situ, complementada por la hibridación genómica comparativa, para la mejor comprensión de la correlación genotipo-fenotipo. La evaluación debe ser interdisciplinaria, en la que se incluya un oportuno asesoramiento genético familiar y, con ello, las opciones terapéuticas disponibles y de forma precoz.


Trisomy 9p is characterized by the partial or complete duplication of the short arm of chromosome 9. It is one of the most common autosomal structural abnormalities in newborn infants. This is a relatively poor gene region, so it may be more compatible with survival. It is characterized by delayed mental and psychomotor growth, craniofacial dysmorphisms, skeletal alterations, central nervous system abnormalities, congenital heart disease, and, to a lesser extent, kidney disorders. To establish a diagnosis, it is necessary to perform a cytogenetic study with G bands and, if available, fluorescence in situ hybridization complemented with comparative genomic hybridization for a better understanding of the genotype-phenotype correlation. Assessment should be interdisciplinary and encompassing a timely family genetic counseling, together with available therapeutic options in an early manner.


Subject(s)
Humans , Infant, Newborn , Therapeutics , Trisomy , Chromosomes, Human, Pair 9 , Diagnosis , Genetic Counseling
6.
Article in Chinese | WPRIM | ID: wpr-776793

ABSTRACT

OBJECTIVE@#To analyze the clinical and molecular genetic characteristics of patient with Kleefstra syndrome 1.@*METHODS@#Clinical data, chromosomal karyotype and whole genome copy number variations (CNVs) of the patient were analyzed.@*RESULTS@#The patient was found to have a karyotype of 45,XX,-9[4]/46,XX,r(9)(p24q34)[56]. Whole-genome CNVs detection revealed that she has carried a heterozygous deletion of approximately 670 kb at 9q34.3, which encompassed the entire EHMT1 gene. The region is strongly associated with Kleefstra syndrome (1/9q telomere deletion). In addition, the patient also had heterozygous deletion of 9pter, which may predispose to formation of ring chromosome 9.@*CONCLUSION@#The child was diagnosed with Kleefstra syndrome type 1 in conjunct with ring chromosome 9.


Subject(s)
Child , Chromosome Deletion , Chromosomes, Human, Pair 9 , Genetics , Craniofacial Abnormalities , Genetics , DNA Copy Number Variations , Female , Heart Defects, Congenital , Genetics , Humans , Intellectual Disability , Genetics , Ring Chromosomes
7.
Article in Chinese | WPRIM | ID: wpr-772013

ABSTRACT

OBJECTIVE@#To determine the nature and origin of aberrant chromosomes in a child with multiple anomalies and psychomotor retardation.@*METHODS@#Routine G-banding was carried out to analyze the karyotypes of the patient and his parents, and next generation sequencing for copy number variations (CNV-seq) was used for the fine mapping of the aberrant chromosomal regions.@*RESULTS@#The proband and his uncle exhibited psychomotor retardation, craniofacial malformation, infantile external genitalia, and concealed penis. Cytogenetic analysis indicated that the child has a 46,XYqh+,+(9),t(9;13)(q13;q12),pat,-13 karyotype. His uncle was XYqh+,+(9),t(9;13)(q13;q12)mat,-13, his father was 46,XYqh+,t(9;13)(q13;q12)mat, his grandmother was 46,XX,t(9;13)(q13;q12), and his grandfather was 46,XYqh+. The result of CNV-seq assay for the child was 46,XY,+9p(pter-p13.2,-40 Mb×3). No deletion was detected.@*CONCLUSION@#The partial trisomy 9 and partial monosomy 13 probably underlie the phenotypic abnormalities in the child. Combined chromosomal karyotyping and DNA sequencing can facilitate delineation of the nature and origin of the aberrant chromosomes.


Subject(s)
Abnormalities, Multiple , Child , Chromosome Deletion , Chromosomes, Human, Pair 13 , Chromosomes, Human, Pair 9 , DNA Copy Number Variations , Humans , Karyotyping , Male , Monosomy , Pedigree , Translocation, Genetic , Trisomy
8.
Arch. argent. pediatr ; 116(4): 603-608, ago. 2018. ilus, tab
Article in Spanish | LILACS, BINACIS | ID: biblio-950051

ABSTRACT

En pacientes con malformaciones congénitas y retraso del desarrollo psicomotor, deben descartarse cromosomopatías. Las más frecuentes son las translocaciones recíprocas balanceadas, presentes en 1:500 recién nacidos vivos. Por lo general, los portadores tienen fenotipo normal, aunque, ocasionalmente, presentan infertilidad, abortos o hijos con malformaciones. La translocación balanceada entre los cromosomas 2 y 9 puede originar descendencia con monosomías y trisomías de estos cromosomas. La monosomía del brazo corto del cromosoma 9 puede presentarse con trigonocefalia, dismorfias faciales, anomalías genitales y retraso del desarrollo psicomotor. En este trabajo, se revisaron las alteraciones de los cromosomas 2 y/o 9 en los cariotipos realizados en nuestra Institución en 2005-2014. Se presentan dos pacientes con monosomía 9p asociada a translocación (2;9). Las pacientes comparten datos de monosomía 9p24-pter; la correlación genotipo-fenotipo es compleja por el tamaño de los segmentos involucrados. Se resalta la importancia del diagnóstico cromosómico para el asesoramiento genético.


In patients with malformations and delayed psychomotor development it is important to discard chromosomopathies. Balanced reciprocal translocations are the most frequent chromosomopathies present in 1:500 live newborns. In general, carriers have normal phenotype, but they may have infertility, abortions or children with congenital malformations. The reciprocal translocation between chromosomes 2 and 9 can lead to offspring with monosomies and trisomies of these chromosomes. Short arm monosomy of chromosome 9 may present delayed psychomotor development, trigonocephaly, facial dysmorphia and genital abnormalities. We reviewed GTG karyotype records from our Institution to identify cases with chromosomes 2 and/or 9 alterations from 2005 to 2014. We describe two cases with monosomy 9p secondary to a translocation between chromosomes 2 and 9. The patients share features of monosomy 9p24-pter, however the genotype-phenotype correlation is complex due to the extension of the involved segments. We emphasize the importance of chromosomal diagnosis to offer genetic assessment.


Subject(s)
Humans , Female , Infant, Newborn , Child, Preschool , Translocation, Genetic , Chromosome Disorders/diagnosis , Phenotype , Chromosomes, Human, Pair 9/genetics , Chromosome Deletion , Chromosome Disorders/genetics , Genotype , Karyotyping
9.
Article in Chinese | WPRIM | ID: wpr-775821

ABSTRACT

OBJECTIVE@#To explore the genetic cause for a child featuring growth and mental retardation.@*METHODS@#Following conventional karyotyping analysis of the trio family, next generation sequencing (NGS) was carried out to explore the origin of the supernumerary marker chromosome. Fluorescence in situ hybridization (FISH) was used to confirm the result.@*RESULTS@#The karyotypes of both parents were normal, while the proband was found to be 47,XX,+mar. NGS showed that the supernumerary marker has originated from chromosome 9p13.1p24.3 with a size of 39.77 Mb. FISH has confirmed the above finding.@*CONCLUSION@#The 9p13.1-p24.3 trisomy probably underlies the abnormal phenotypes of the child. Cytogenetic analysis combined with NGS and FISH can provide accurate diagnosis for such disorders.


Subject(s)
Child , Chromosomes, Human, Pair 9 , Genetics , Cytogenetic Analysis , High-Throughput Nucleotide Sequencing , Humans , In Situ Hybridization, Fluorescence , Karyotyping , Trisomy
10.
Blood Research ; : 152-159, 2018.
Article in English | WPRIM | ID: wpr-714928

ABSTRACT

BACKGROUND: To analyze the frequency of atypical fluorescence in situ hybridization signal patterns and estimate the complete cytogenetic response (CCyR) and major molecular response (MMR) during 12 months of tyrosine kinase inhibitor therapy in patients with newly diagnosed chronic myeloid leukemia. METHODS: The study included bone marrow and peripheral blood samples from 122 patients with newly diagnosed chronic myeloid leukemia. Detection of the breakpoint cluster region—Abelson fusion gene (BCR-ABL1) was performed using fluorescence in situ hybridization with a dual-color dual-fusion translocation probe, and MMR analysis was performed using the real-time quantitative polymerase chain reaction method. RESULTS: Variant translocation was determined in 10 samples and a deletion on the derivative chromosome 9 (del/der(9)) was found in 20 samples. The rates of CCyR and MMR were similar between patients with reciprocal translocation, variant translocation, deletion of derivative BCR, or ABL1-BCR fusion gene. The Kaplan-Meier test did not show any significant differences in the rates of CCyR and MMR among those groups of patients. CONCLUSION: The frequencies of variant translocation and del/der(9) in the present study agree with the results of other studies performed worldwide. No differences were observed in the rates of CCyR and MMR between patients with atypical patterns and reciprocal translocation.


Subject(s)
Bone Marrow , Chromosomes, Human, Pair 9 , Cytogenetics , Fluorescence , Humans , In Situ Hybridization , Incidence , Kaplan-Meier Estimate , Leukemia, Myelogenous, Chronic, BCR-ABL Positive , Leukemia, Myeloid , Methods , Polymerase Chain Reaction , Protein-Tyrosine Kinases , Tyrosine
11.
Rev. ADM ; 74(2): 94-99, mar.-abr. 2017. ilus, tab
Article in Spanish | LILACS | ID: biblio-869360

ABSTRACT

Este síndrome fue escrito en 1960 por Robert J Gorlin, patólogo bucalinvestigador formado en Minnesota y por Robert W Goltz, dermatólogo. Es un trastorno autosómico dominante ocasionado por el gen Patched 1 (PTCH1) que se ubica en el cromosoma 9q223, caracterizado por defectos en el desarrollo y alta predisposición al cáncer. La prevalencia es de 1/56,000 y 1/221,000 pacientes. El padecimiento se caracteriza por desarrollo de carcinomas basocelulares, queratoquistes odontogénicos y malformaciones esqueletales. Debido a su alta predisposición al desarrollo de carcinomas basocelulares agresivos, debe diagnosticarse temprana y oportunamente para un pronóstico favorable.


Robert Gorlin a mouth researcher trained pathologist Minnesota andRobert Goltz a dermatologist described this syndrome in 1960. It is anautosomal dominant disorder, caused by the Patched 1 gene (PTCH1)located on chromosome 9q223 characterized by developmental defectsand a high predisposition to cancer. The incidence is 1/56,000 and1/221,000 patients. The condition is characterized by the developmentof basal cell carcinomas, odontogenic keratocystic and skeletalmalformations. Due to its high predisposition to the development ofaggressive basal cell carcinomas should be early and timely diagnosisfor a favorable prognosis.


Subject(s)
Humans , Male , Adolescent , Dental Care for Chronically Ill/methods , Basal Cell Nevus Syndrome/diagnostic imaging , Basal Cell Nevus Syndrome/genetics , Basal Cell Nevus Syndrome/pathology , Chromosomes, Human, Pair 9/genetics , Dental Service, Hospital , Mexico , Oral Manifestations , Prognosis , Basal Cell Nevus Syndrome/epidemiology
13.
Neonatal Medicine ; : 88-91, 2017.
Article in English | WPRIM | ID: wpr-9699

ABSTRACT

Chromosome 9p syndrome is a rare chromosomal abnormality caused by a partial deletion in chromosome 9. It was first described in 1973 by Alfi et al., and has since been shown to have diverse clinical phenotypes. Here, we reported a case of a male infant with joint contracture of the extremities, dysmorphic face, inguinal hernia, and testicular cystic masses. Chromosomal analysis revealed a terminal deletion at the short arm of chromosome 9. The major clinical features of the 9p deletion syndrome are trigonocephaly, small palpebral fissures, a flat nasal bridge, and mental retardation. To the best of our knowledge, this is the first reported case of a patient with 9p24 deletion presenting with arthrogryposis multiplex congenita.


Subject(s)
Arm , Arthrogryposis , Chromosome Aberrations , Chromosomes, Human, Pair 9 , Contracture , Craniosynostoses , Extremities , Hernia, Inguinal , Humans , Infant , Intellectual Disability , Joints , Male , Phenotype
14.
Article in English | WPRIM | ID: wpr-60202

ABSTRACT

Patients with a duplication from 7q36 to the terminus or a deletion of 9p24 have been reported, whereas those harboring both mutations have not. Here, we report a patient with simultaneous de novo 7q36.1-q36.3 duplication and 9p24.3 deletion. A 6-year-old boy presented with speech developmental delay, microcephaly, and dysmorphic features, including a long face and small nose. Chromosome and array comparative genomic hybridization analyses revealed 46,XY,dup(7)(q36.1-q36.3) and del(9)(p24.3). The sizes of the duplication and deletion were 9.9 Mb and 1.9 Mb, respectively. The duplication of chromosome 7 contained 68 known genes, of which 3 are related with entries in the Developmental Disorders Genotype-to-Phenotype (DDG2P) database. The deletion of chromosome 9 contained 6 known genes, of which 2 are in the DDG2P database. We investigated the genotype and phenotype in this patient, and reviewed the relevant literatures for possible clinical presentation in these variations.


Subject(s)
Child , Chromosome Disorders , Chromosomes, Human, Pair 7 , Chromosomes, Human, Pair 9 , Comparative Genomic Hybridization , Developmental Disabilities , Genotype , Humans , Male , Microcephaly , Nose , Phenotype
15.
Article in English | WPRIM | ID: wpr-90982

ABSTRACT

We present a case of a 71-year-old male Chamorro patient from Guam who presented with progressive supranuclear palsy (PSP)-Richardson’s syndrome. Considering his strong family history of parkinsonism and a PSP phenotype, he was clinically diagnosed with Guam parkinsonism-dementia complex (PDC). Magnetic resonance imaging (MRI) of the brain revealed prominent midbrain atrophy with preserved pontine volume, forming the ‘hummingbird’ sign, which has not been described before in Guam PDC. Molecular analysis of the chromosome 9 open reading frame 72 gene (C9orf72) showed only 6 GGGGCC repeats. We discuss the clinico-pathological similarities and differences between PSP and Guam PDC, and highlight the topography of neuropathological changes seen in Guam PDC to explain the appearance of the ‘hummingbird’ sign on MRI.


Subject(s)
Aged , Atrophy , Brain , Chromosomes, Human, Pair 9 , Guam , Humans , Magnetic Resonance Imaging , Male , Mesencephalon , Open Reading Frames , Parkinsonian Disorders , Phenotype , Supranuclear Palsy, Progressive
16.
Article in Chinese | WPRIM | ID: wpr-335112

ABSTRACT

<p><b>OBJECTIVE</b>To use next generation sequencing (NGS) to identify unknown abnormality of chromosome 9 in a fetus and explore its mechanism.</p><p><b>METHODS</b>A pregnant woman with abnormal fetal ultrasound finding underwent amniocentesis for G-banded chromosomal analysis. Karyotyping was also performed on peripheral blood samples derived from its parents. Fetal blood sample was obtained for NGS testing to identify abnormality unrecognized by karyotyping.</p><p><b>RESULTS</b>Analysis of amniocytes has revealed a 46,XX,der(9)(?::p21 to qter) karyotype, while both parents had a normal karyotype. NGS analysis of the fetus revealed a 20.67 Mb duplication (4 454 279-25 126 275) at 9p21.3p24.2, which overlapped with that of the 9p duplication syndrome, and a 4.43 Mb deletion at 9p24.2p24.3 (10 001-4 442 364), which partially overlapped with that of 9p deletion syndrome and 46,XY sex reversal 4 region. Comparison of the sequencing data with reference genome database indicated direct duplication of 9p21.3p24.2, which was also supported by review of the morphology of chromosome 9p. Therefore, the karyotype of the fetus was verified to be 46,XX,der(9) dir dup(9)(p21.3p24.2), del(9)(p24.2p24.3).</p><p><b>CONCLUSION</b>Combined G-banded karyotyping and NGS can identify dir dup del(9p) with accuracy. Delineation of the mechanism of dir dup del(9p) and its genotype-phenotype correlation may facilitate genetic counseling and estimation of recurrence risk.</p>


Subject(s)
Adult , Chromosome Banding , Chromosome Deletion , Chromosomes, Human, Pair 9 , Genetics , Female , Fetal Diseases , Diagnosis , Genetics , Humans , Male , Pregnancy , Prenatal Diagnosis , Trisomy , Genetics
17.
Article in Chinese | WPRIM | ID: wpr-345318

ABSTRACT

<p><b>OBJECTIVE</b>To explore the genetic and clinical characteristics of isodicentric Ph chromosomes [idic(Ph)] in lymphoid blast crisis of chronic myeloid leukemia (CML-BLC).</p><p><b>METHODS</b>Bone marrow aspirates of 2 patients with CML-BLC were analyzed by R banding after 24 hours of culturing. Genomic copy number variations (CNV) were analyzed by single nucleotide polymorphism array (SNP array) in case 1. The results were confirmed with fluorescence in situ hybridization (FISH). Variations of acute lymphoblastic leukemia-related genes including CDKN2A/AB and PAX5 were detected by multiplex ligation-dependent probe amplication (MLPA).</p><p><b>RESULTS</b>Deletions and duplications on derivative chromosome 9 detected by FISH were confirmed by SNP array analysis. The distances between the BCR/ABL fusion signals on the idic(Ph) chromosomes in the two patients have differed greatly. The idic(Ph) in the second patient was supposed to be formed by two Ph chromosomes joined at their q terminals, where as the idic(Ph) in the first patient have been shown to be fused at the satellite regions of their p arms.</p><p><b>CONCLUSION</b>The idic(Ph) chromosomes presented in CML-BLC may predict resistance to Imatinib and response to Dasatinib.</p>


Subject(s)
Blast Crisis , Diagnosis , Genetics , Therapeutics , Chromosome Aberrations , Chromosome Banding , Chromosome Deletion , Chromosome Duplication , Chromosomes, Human, Pair 9 , Genetics , DNA Copy Number Variations , Fatal Outcome , Female , Humans , In Situ Hybridization, Fluorescence , Karyotyping , Leukemia, Myelogenous, Chronic, BCR-ABL Positive , Diagnosis , Genetics , Therapeutics , Male , Middle Aged , Philadelphia Chromosome
18.
Article in Chinese | WPRIM | ID: wpr-344162

ABSTRACT

<p><b>OBJECTIVE</b>To determine the origin of chromosomal aberration in a boy with mental retardation and multiple congenital malformations.</p><p><b>METHODS</b>The karotypes of the proband and his parents were analyzed with conventional G-banding. Their genomic DNA was analyzed with array comparative genomic hybridization (aCGH).</p><p><b>RESULTS</b>No karyotypic abnormality was detected in the proband and his parents. aCGH has identified a de novo 405 kb deletion at 9q34.3 in the proband, which encompassed the EHMT1 gene and part of CACNA1B gene.</p><p><b>CONCLUSION</b>The de novo 9q34.3 deletion probably underlies the mental retardation and development delay in the boy. EHMT1 may be one of the key genes responsible for 9q34.3 microdeletion syndrome.</p>


Subject(s)
Child , Chromosome Banding , Chromosome Deletion , Chromosomes, Human, Pair 9 , Genetics , Comparative Genomic Hybridization , Craniofacial Abnormalities , Genetics , Heart Defects, Congenital , Genetics , Histone-Lysine N-Methyltransferase , Genetics , Humans , Intellectual Disability , Genetics , Karyotyping , Male
19.
Article in Chinese | WPRIM | ID: wpr-247732

ABSTRACT

<p><b>OBJECTIVE</b>To explore the genetics mechanism for the phenotypic variability in a patient carrying a rare ring chromosome 9.</p><p><b>METHODS</b>The 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).</p><p><b>RESULTS</b>The 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.</p><p><b>CONCLUSION</b>The 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.</p>


Subject(s)
Chromosomes, Human, Pair 9 , Genetics , Female , Humans , Infant , Karyotype , Male , Ring Chromosomes , Sex Chromosome Disorders , Genetics
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