scholarly journals Distal Partial Trisomy 15q26 and Partial Monosomy 16p13.3 in a 36-Year-Old Male with Clinical Features of Both Chromosomal Abnormalities

2015 ◽  
Vol 145 (1) ◽  
pp. 29-34 ◽  
Author(s):  
Devin M. Cox ◽  
Merlin G. Butler
Keyword(s):  
Intellectual Disability ◽  
Chromosomal Abnormalities ◽  
Receptor Gene ◽  
Partial Trisomy ◽  
Chromosome Translocation ◽  
Fish Analysis ◽  
Partial Monosomy ◽  
Chronic Anemia ◽  
Dysmorphic Features ◽  
History Of

We report a 36-year-old Caucasian male identified with distal partial trisomy 15q and partial monosomy 16p from an unbalanced chromosome translocation detected by microarray and FISH analysis. He had a history of developmental delay and intellectual disability, chronic anemia, tall and slender stature, thoracic scoliosis and lumbar lordosis, and dysmorphic features. The distal partial trisomy 15q included the insulin-like growth factor 1 receptor gene involved with growth, while genes in the distal partial monosomy 16p region are involved with alpha hemoglobin production, intellectual disability, dysmorphic features, and acromegaly. The chromosome derivative found in our patient contains genes known to play a role in his phenotype.

scholarly journals Allelic and dosage effects of NHS in X-linked cataract and Nance–Horan syndrome: a family study and literature review

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Caroline Miller ◽  
Benjamin G. Gertsen ◽  
Audrey L. Schroeder ◽  
Chin-To Fong ◽  
M. Anwar Iqbal ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Gene Disruption ◽  
Single Gene ◽  
Horseshoe Kidney ◽  
Partial Trisomy ◽  
Primary Amenorrhea ◽  
Fish Analysis ◽  
Balanced Translocation ◽  
Partial Monosomy ◽  
Congenital Cataracts

AbstractNance–Horan syndrome (NHS) is a rare X-linked dominant disorder caused by mutation in the NHS gene on chromosome Xp22.13. (OMIM 302350). Classic NHS manifested in males is characterized by congenital cataracts, dental anomalies, dysmorphic facial features and occasionally intellectual disability. Females typically have a milder presentation. The majority of reported cases of NHS are the result of nonsense mutations and small deletions. Isolated X-linked congenital cataract is caused by non-recurrent rearrangement-associated aberrant NHS transcription. Classic NHS in females associated with gene disruption by balanced X-autosome translocation has been infrequently reported. We present a familial NHS associated with translocation t(X;19) (Xp22.13;q13.1). The proband, a 28-year-old female, presented with intellectual disability, dysmorphic features, short stature, primary amenorrhea, cleft palate, and horseshoe kidney, but no NHS phenotype. A karyotype and chromosome microarray analysis (CMA) revealed partial monosomy Xp/partial trisomy 19q with the breakpoint at Xp22.13 disrupting the NHS gene. Family history revealed congenital cataracts and glaucoma in the patient’s mother, and congenital cataracts in maternal half-sister and maternal grandmother. The same balanced translocation t(X;19) was subsequently identified in both the mother and maternal half-sister, and further clinical evaluation of the maternal half-sister made a diagnosis of NHS. This study describes the clinical implication of NHS gene disruption due to balanced X-autosome translocations as a unique mechanism causing Nance–Horan syndrome, refines dose effects of NHS on disease presentation and phenotype expressivity, and justifies consideration of karyotype and fluorescence in situ hybridization (FISH) analysis for female patients with familial NHS if single-gene analysis of NHS is negative.

A Novel SETBP1 Gene Disruption by a De Novo Balanced Translocation in a Patient with Speech Impairment, Intellectual, and Behavioral Disorder

2020 ◽  
Author(s):  
Ivona Vrkić Boban ◽  
Futoshi Sekiguchi ◽  
Mirela Lozić ◽  
Noriko Miyake ◽  
Naomichi Matsumoto ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Autosomal Dominant ◽  
De Novo ◽  
Chromosomal Abnormalities ◽  
Chromosome Translocation ◽  
Behavioral Disorder ◽  
Behavioral Difficulties ◽  
Speech Impairment ◽  
Balanced Translocation ◽  
Severe Intellectual Disability

AbstractBalanced chromosomal abnormalities (BCAs) can disrupt gene function resulting in disease. To date, BCA disrupting the SET binding protein 1 (SETBP1) gene has not been reported. On the other hand, de novo heterozygous variants in the highly conserved 11-bp region in SETBP1 can result in the Schinzel–Giedion syndrome. This condition is characterized by severe intellectual disability, a characteristic face, and multiple-system anomalies. Further other types of mutations involving SETBP1 are associated with a different phenotype, mental retardation, autosomal dominant 29 (MRD29), which has mild dysmorphic features, developmental delay, and behavioral disorders. Here we report a male patient who has moderate intellectual disability, mild behavioral difficulties, and severe expressive speech impairment resulting from a de novo balanced chromosome translocation, t(12;18)(q22;q12.3). By whole genome sequencing, we determined the breakpoints at the nucleotide level. The 18q12.3 breakpoint was located between exons 2 and 3 of SETBP1. Phenotypic features of our patient are compatible with those with MRD29. This is the first reported BCA disrupting SETBP1.

Charge Association-related Ocular Pathology in a Newborn with Partial Trisomy 19q and Partial Monosomy 21q, from a Maternal Translocation (19;21) (q13.1;q22.3)

1999 ◽  
Vol 2 (6) ◽  
pp. 577-581 ◽  
Author(s):  
Ronald R. De Krijger ◽  
Cornelia M. Mooy ◽  
Jan O. Van Hemel ◽  
Eric J. Sulkers ◽  
Johan M. Kros ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Partial Trisomy ◽  
Cardiac Anomaly ◽  
Partial Monosomy ◽  
Dysmorphic Features ◽  
Genetic Abnormalities ◽  
Heart Malformation ◽  
The Face ◽  
Ear Anomalies ◽  
Cns Anomalies

We report a novel case of partial trisomy 19q and concomitant partial monosomy 21q, segregated from a maternal translocation (19;21) (q13.1;q22.3), identified by spectral karyotyping. Clinical examination revealed dysmorphic features of the face and limbs, cleft palate, bilateral colobomas with associated bilateral colobomatous optic nerve cysts, hearing loss, and a cardiac anomaly. At autopsy, the dysmorphic features and cleft palate were confirmed. The ocular histopathology is described in detail and the cardiac anomaly was further specified. The combination of phenotype features is diagnostic of the CHARGE ( coloboma, heart malformation, atresia choanae, retarded growth and development, and/or CNS anomalies, genital hypoplasia, ear anomalies and/or deafness) association. This case also has some phenotypic features in common with previous cases of partial trisomy 19q. The importance of a complete autopsy in cases with multiple congenital anomalies and/or genetic abnormalities is emphasized. This will allow optimal genetic counseling and contribute to our understanding of developmental biology.

scholarly journals Fatal Outcome in a Newborn Calf Associated with Partial Trisomy 25q and Partial Monosomy 11q, 60,XX,der(11)t(11;25)(q11;q14∼21)

2015 ◽  
Vol 146 (3) ◽  
pp. 222-229 ◽  
Author(s):  
Alessandra Iannuzzi ◽  
Viviana Genualdo ◽  
Angela Perucatti ◽  
Alfredo Pauciullo ◽  
Giovanna Varricchio ◽  
...  
Keyword(s):  
Chromosomal Aberration ◽  
Case Reports ◽  
Fatal Outcome ◽  
Partial Trisomy ◽  
Fish Analysis ◽  
Derivative Chromosome ◽  
Chromosome 11 ◽  
Balanced Translocation ◽  
Partial Monosomy ◽  
Cytogenetic Investigation

A newborn calf of the Agerolese cattle breed underwent clinical cytogenetic investigation because of hyperflexion of the forelimbs, red eyes and the inability to stand. Anamnesis revealed that the mother, phenotypically normal, carried a chromosomal aberration. The newborn died after 2 weeks, and no remarkable alterations were found by the veterinarian on postmortem examination. The mother was a carrier of a reciprocal balanced translocation rcp(11;25)(q11,q14∼21) detected after a cytogenetic investigation in 2011; however, the analysis of the newborn revealed a different chromosomal aberration with partial trisomy of chromosome 25 and partial monosomy of chromosome 11. In fact, the results showed both chromosomes 25, one chromosome 11 and only one long derivative chromosome (der11). FISH analysis, performed using BAC clones, confirmed the chromosomes and their regions involved. Finally, both the localization of the breakpoints on band q11 (centromere) of chromosome 11 and band q14-21 of chromosome 25, and the complete loss of the der25 identified the aberration as an unbalanced translocation 60,XX,der(11)t(11;25)(q11;q14∼21). A comparison with human chromosomes was also performed to search for similarities and possible genes involved in order to study their effects, thus extending the knowledge of these aberrations by case reports.

scholarly journals Complex cytogenetic research of cryptic chromosomal aberrations in patients with multiple myeloma

2019 ◽  
Vol 18 (1) ◽  
pp. 50-59
Author(s):  
A. A. Solodovnik ◽  
А. S. Mkrtchyan ◽  
V. A. Misyurin ◽  
L. A. Kesaeva ◽  
N. N. Kasatkina ◽  
...  
Keyword(s):  
Multiple Myeloma ◽  
Chromosomal Aberrations ◽  
Plasma Cells ◽  
Chromosomal Abnormalities ◽  
Partial Trisomy ◽  
Fish Analysis ◽  
National Medical ◽  
Clonal Proliferation ◽  
Cytogenetic Aberrations ◽  
Wide Range

Background . Multiple myeloma (MM) is a malignant lymphoproliferative B-cell disease characterization by clonal proliferation of plasma cells in the bone marrow and beyond its borders. Currently, a wide range of cytogenetic anomalies and molecular-biological parameters are studied as prognostic factors.Objective: a comparative study of the frequency, features and clinical significance of chromosomal abnormalities in MM by conventional cytogenetic and fluorescent in situ hybridization (FISH) methods.Materials and methods . 77 patients with MM, which admitted in N.N. Blokhin National Medical Research Center of Oncology, were included in the study from 2016 to 2017.Results . Chromosomal alterations were detected only in one case (1/77) by conventional cytogenetic method G-banding. However cytogenetic aberrations were revealed in 26 % of cases (20/77) using FISH. Deletions of different regions of chromosomes, indicating the possible presence of a hypodiploid clone or loss of some regions, were found in one patient in the second FISH analysis after 6 months. In the cohort of patients with chromosomal abnormalities (n = 20) a partial trisomy 11q, a deletion of the region q32 of the chromosome 14, a translocation t(4;14)(p16;q32) and IGHV gene rearrangement were determined in 30 % (6/20) as sole anomalies. Two or more cytogenetic aberrations were identified in the remaining 14 patients. Our study confirms that chromosomal abnormalities are more likely detected at later stages of MM (IA и IIA – 0 %, IIIA и IIIВ – 27 and 47 % respectively).Conclusion . FISH allows to detect chromosomal changes in tumor plasma cells regardless of the mitosis phase. In MM, it becomes particularly important in connection with low proliferative activity of plasma cells. Additionally, in the fourth of MM patients in the study submicroscopic chromosomal aberrations were discovered using FISH. The improvement of the probe panel and the widespread use of locus specific FISH don’t replace G-banding that allows to see damages of all chromosomes at once.

scholarly journals Fetal cystic hygroma associated with terminal 2p25.1 duplication and terminal 3p25.3 deletion: Cytogenetic, fluorescent in situ hybridization and microarray familial characterization of two different chromosomal structural rearrangements

2020 ◽  
Vol 23 (2) ◽  
pp. 79-86
Author(s):  
F Stipoljev ◽  
M Barbalic ◽  
M Logara ◽  
A Vicic ◽  
M Vulic ◽  
...  
Keyword(s):  
Late Pregnancy ◽  
Partial Trisomy ◽  
Cystic Hygroma ◽  
Fish Analysis ◽  
Unbalanced Translocation ◽  
Balanced Translocation ◽  
Partial Monosomy ◽  
Sonographic Examination ◽  
Gene Map

Abstract We report a prenatally diagnosed case of partial trisomy 2p and partial monosomy 3p, resulting from unbalanced translocation (2;3)(p25.1;p25.3) of paternal origin. Parents were non consanguineous Caucasians, with familial history of recurrent miscarriages on the father’s side. Detailed sonographic examination of the fetus showed a septated cystic hygroma measuring 6 mm at 13 weeks’ gestation. Karyotyping and fluorescent in situ hybridization (FISH) analysis of cultured amniotic fluid cells revealed an unbalanced translocation der(3)t(2;3)(p25.1; p25.3) and apparently balanced inv(3)(p13p25.3) in a fetus. Parental cytogenetic evaluation using karyotyping and FISH analysis showed the presence of both a balanced translocation and a paracentric inversion in father t(2;3) (p25.1;p25.3) inv(3)(p13p25.3). Microarray analysis showed a 11.6 Mb deletion at 3p26.3-p25.3 and duplication of 10.5 Mb at the 2p25.3-p25 region. The duplicated region at 2p25.1p25.3 contains 45 different genes, where 12 are reported as OMIM morbid genes with different phenotypical implications. The deleted region at 3p26.3-p25.3 contains 65 genes, out of which 27 are OMIM genes. Three of these (CNTN4, SETD5 and VHL) were curated by Clingene Dosage Gene Map and were given a high haplo-insufficiency score. Genes affected by the unbalanced translocation could have contributed to some specific phenotypic changes of the fetus in late pregnancy. The application of different cytogenetic methods was essential in our case, allowing the detection of different types of structural chromosomal aberrations and more thorough genetic counseling for future pregnancies.

scholarly journals A very rare partial trisomy syndrome: De novo duplication of 16q12.1q23.3 in a Turkish girl with developmental delay and facial dysmorphic features

2020 ◽  
Vol 23 (1) ◽  
pp. 103-108
Author(s):  
A Türkyılmaz ◽  
O Yaralı
Keyword(s):  
Developmental Delay ◽  
De Novo ◽  
Chromosomal Abnormalities ◽  
Chromosomal Translocation ◽  
Partial Trisomy ◽  
Clinical Findings ◽  
Comparative Genomic ◽  
Dysmorphic Features ◽  
Autosomal Trisomy ◽  
Metopic Suture

AbstractTrisomy 16 is the most common type of autosomal trisomy associated with spontaneous abortion and is incompatible with life. Upon examining previously reported cases of partial chromosome 16q duplication, it was noted that the majority of cases had complex chromosomal abnormalities due to parental balanced chromosomal translocation carriage. The clinical presentation of very rare pure partial trisomy 16q cases was associated with congenital anomalies, facial dysmorphic findings and intellectual disability. In this study, we evaluated the physical characteristics and genetic data of an 8-month-old girl with developmental delay and facial dysmorphic features. Dysmorphic features including prominent metopic suture, synophrys, asymmetric head shape, triangular and asymmetric face, telecanthus, epicanthal folds, down-slanting palpebral fissures, microphthalmia of the left eye, anteverted nares, smooth and tented philtrum, microretrognathia, low-set posteriorly rotated ears, auricular pits, high-arched palate, thin upper lip and hypotonia were recorded. Her karyotype was 46,XX,add(16)(q24). To identify the extension of the duplicated section, array comparative genomic hybridization (aCGH) analysis was performed, which showed a de novo 29.8 Mb duplication [arr[hgl9] 16q12.1q23.3(52459169-82285105) x 3], interpreted to be pathogenic. We present this case report to clarify the clinical findings of a rare chromosomal anomaly, discuss the genes that may be related to the phenotype and advance the literature in terms of knowledge regarding genotypephenotype correlation.

scholarly journals Analysis of chromosomal abnormalities by CGH-array in patients with dysmorphic and intellectual disability with normal karyotype

2016 ◽  
Vol 14 (1) ◽  
pp. 30-34 ◽  
Author(s):  
Rodrigo Pratte-Santos ◽  
Katyanne Heringer Ribeiro ◽  
Thainá Altoe Santos ◽  
Terezinha Sarquis Cintra
Keyword(s):  
Intellectual Disability ◽  
Chromosomal Abnormalities ◽  
Specific Treatment ◽  
Normal Karyotype ◽  
Genetic Profile ◽  
Cgh Array ◽  
Dysmorphic Features ◽  
Pathogenic Variants ◽  
Etiologic Diagnosis

ABSTRACT Objective To investigate chromosomal abnormalities by CGH-array in patients with dysmorphic features and intellectual disability with normal conventional karyotype. Methods Retrospective study, carried out from January 2012 to February 2014, analyzing the CGH-array results of 39 patients. Results Twenty-six (66.7%) patients had normal results and 13 (33.3%) showed abnormal results - in that, 6 (15.4%) had pathogenic variants, 6 (15.4%) variants designated as uncertain and 1 (2.5%) non-pathogenic variants. Conclusion The characterization of the genetic profile by CGH-array in patients with intellectual disability and dysmorphic features enabled making etiologic diagnosis, followed by genetic counseling for families and specific treatment.

scholarly journals Familial Translocation t(2;4) (q37.3;p16.3), Resulting in a Partial Trisomy of 2q (or 4p) and a Partial Monosomy of 4p (or 2q), Causes Dysplasia

2021 ◽  
Vol 12 ◽  
Author(s):  
Jian Wang ◽  
Shiyuan Zhou ◽  
Fei He ◽  
Xuelian Zhang ◽  
Jianqi Lu ◽  
...  
Keyword(s):  
Case Report ◽  
Intellectual Disability ◽  
Developmental Delay ◽  
Critical Region ◽  
Congenital Anomalies ◽  
Clinical Symptoms ◽  
Partial Trisomy ◽  
Multiple Congenital Anomalies ◽  
Microdeletion Syndrome ◽  
Partial Monosomy

Background: Wolf-Hirschhorn syndrome, a well-known contiguous microdeletion syndrome, is caused by deletions on chromosome 4p. While the clinical symptoms and the critical region for this disorder have been identified based on genotype-phenotype correlations, duplications in this region have been infrequently reported.Conclusion: Our case report shows that both deletions and duplications of the Wolf-Hirshhorn critical region cause intellectual disability/developmental delay and multiple congenital anomalies.

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