scholarly journals Partial trisomy 15: a rare occurrence

2019 ◽  
Vol 6 (2) ◽  
pp. 883
Author(s):  
Prachi Gandhi ◽  
Sushma Malik ◽  
Sharan Subramanian ◽  
Poonam Wade ◽  
Shruti Saxena ◽  
...  
Keyword(s):  
Clinical Course ◽  
Partial Trisomy ◽  
Chromosome 15 ◽  
Craniofacial Anomalies ◽  
Rare Entity ◽  
Short Neck ◽  
Narrow Face ◽  
Nasal Bridge ◽  
Skeletal Malformations ◽  
Broad Nasal Bridge

Partial trisomy 15q is a very rare entity and most of them are characterized by duplication of regions 15q21-15q26.3. This duplication is frequently associated with deletions in another chromosome resulting in unbalanced translocations. Authors report here, a rare case of partial trisomy 15, with breakpoints between 15q11.1 to q23, probably the first reported case with these breakpoints. Irrespective of the breakpoints, the phenotypic features are consistent in all affected cases and predominantly consist of craniofacial anomalies. In addition, finger abnormalities, very short neck, skeletal malformations and congenital heart disease may be present. Our neonate had typical dysmorphic features of arachnocamptodactyly, narrow face, large prominent, nose with broad nasal bridge, long philtrum, pointed chin, short neck, and low set deformed ears.  Neonates’ cytogenetic analysis revealed additional chromosomal material on the long arm of the chromosome 15 from q11.1 to q23.1, which was suggestive of partial trisomy of chromosome 15. Most cases reported have had a stormy clinical course, however, our proband had only mild respiratory distress at birth and she was discharged in a few days.

Distal Trisomy of 10q with Distal Monosomy of 15q Due to a Paternal Translocation

2009 ◽  
Vol 37 (4) ◽  
pp. 1230-1237 ◽  
Author(s):  
Sun Shunchang ◽  
FW Luo ◽  
HW Song ◽  
JB He ◽  
YS Peng
Keyword(s):  
Male Infant ◽  
Partial Trisomy ◽  
Comparative Genomic ◽  
Chromosome 15 ◽  
Unbalanced Translocation ◽  
Partial Monosomy ◽  
Nasal Bridge ◽  
Depressed Nasal Bridge ◽  
Chromosomal Breakpoints ◽  
Microarray Comparative Genomic Hybridization

Distal trisomy of 10q is a rare chromosomal abnormality. Distal deletions of the terminal long arm of chromosome 15 have rarely been described. We report on a male infant with low birth weight and microcephaly, a flat face with a spacious forehead, low-set ears, blepharophimosis, microphthalmia, a small nose, and a depressed nasal bridge. Microarray comparative genomic hybridization identified that he had the karyotype 46, XY, der (15) t (10;15) (q25.2;q26.2) pat, with chromosomal breakpoints at 10q25.2 and 15q26.2. This male neonatal case had an unbalanced translocation inherited from his father who was a balanced carrier with the karyotype 46, XY, t (10;15) (q25;q26). The neonate had a partial trisomy of the long arm of chromosome 10 with a partial monosomy of distal 15q. The clinical features were in agreement with previous descriptions and allowed us to propose a growth retardation phenotype for this neonate case.

scholarly journals Clinical, Cytogenetic, and Biochemical Analyses of a Family with a t(3;13)(q26.2;p11.2): Further Delineation of 3q Duplication Syndrome

2013 ◽  
Vol 2013 ◽  
pp. 1-8 ◽  
Author(s):  
M. Abreu-González ◽  
C. García-Delgado ◽  
A. Cervantes ◽  
A. Aparicio-Onofre ◽  
R. Guevara-Yáñez ◽  
...  
Keyword(s):  
Congenital Heart ◽  
Chromosomal Abnormalities ◽  
Acrocentric Chromosome ◽  
Partial Trisomy ◽  
Balanced Translocation ◽  
Nasal Bridge ◽  
Genomic Imbalances ◽  
Biochemical Analyses ◽  
Broad Nasal Bridge ◽  
Duplication Syndrome

Chromosomal abnormalities that result in genomic imbalances are a major cause of congenital and developmental anomalies. Partial duplication of chromosome 3q syndrome is a well-described condition, and the phenotypic manifestations include a characteristic facies, microcephaly, hirsutism, synophrys, broad nasal bridge, congenital heart disease, genitourinary disorders, and mental retardation. Approximately 60%–75% of cases are derived from a balanced translocation. We describe a family with a pure typical partial trisomy 3q syndrome derived from a maternal balanced translocation t(3;13)(q26.2;p11.2). As the chromosomal rearrangement involves the short arm of an acrocentric chromosome, the phenotype corresponds to a pure trisomy 3q26.2-qter syndrome. There are 4 affected individuals and several carriers among three generations. The report of this family is relevant because there are few cases of pure duplication 3q syndrome reported, and the cases described here contribute to define the phenotype associated with the syndrome. Furthermore, we confirmed that the survival until adulthood is possible. This report also identified the presence of glycosaminoglycans in urine in this family, not related to the chromosomal abnormality or the phenotype.

scholarly journals An orthodontic perspective on Larsen syndrome

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Madoka Yasunaga ◽  
Hiroyuki Ishikawa ◽  
Kenichi Yanagita ◽  
Sachio Tamaoki
Keyword(s):  
Foot Deformities ◽  
Dental Arch ◽  
Cephalometric Analysis ◽  
Craniofacial Anomalies ◽  
Nasal Bridge ◽  
Skeletal Morphology ◽  
Larsen Syndrome ◽  
Craniofacial Dysmorphism ◽  
Joint Dislocations ◽  
Large Joint

Abstract Background Larsen syndrome (LS) is a rare disorder of osteochondrodysplasia. In addition to large-joint dislocations, craniofacial anomalies are typical characteristics. In this report, we performed orthodontic analyses, including skeletal and occlusal evaluations, to examine whether the craniofacial skeletal morphology leads to the craniofacial anomalies in LS. Case presentation A 5 year old Japanese girl who was clinically diagnosed with LS was referred to the orthodontic clinic in the Fukuoka Dental College Medical and Dental Hospital because of a malocclusion. Clinical findings at birth were knee-joint dislocations, equinovarus foot deformities, and cleft soft palate. The patient showed craniofacial anomalies with hypertelorism, prominent forehead, depressed nasal bridge, and flattened midface. To evaluate the craniofacial skeletal morphology, cephalometric analysis was performed. In the frontal cephalometric analysis, the larger widths between bilateral points of the orbitale were related to hypertelorism. The lateral cephalometric analysis revealed the midface hypoplasia and the retrognathic mandible. These findings were responsible for the flattened appearance of the patient’s face, even if the anteroposterior position of the nasion was normal. Her forehead looked prominent in relation to the face probably because of the retrognathic maxilla and mandible. Both the study model and the frontal cephalometric analysis indicated constriction of the upper and lower dental arches. The posterior crossbite facilitated by the premature contacts had developed in association with the constriction of the upper dental arch. Conclusions This patient had some craniofacial anomalies with characteristic appearances in LS. It was evident that the underlying skeletal morphology led to the craniofacial dysmorphism.

Familial Partial Trisomy of the Long Arm of Chromosome 10 (q24-26)

PEDIATRICS ◽  
1975 ◽  
Vol 56 (5) ◽  
pp. 756-761
Author(s):  
Humberto Moreno-Fuenmayor ◽  
Elaine H. Zackai ◽  
William J. Mellman ◽  
Margaret Aronson
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Partial Trisomy ◽  
Unbalanced Translocation ◽  
Upper Lip ◽  
Partial Monosomy ◽  
Nasal Bridge ◽  
Depressed Nasal Bridge ◽  
Hands And Feet

Two fourth cousins with a strikingly similar pattern of malformation and who have an unbalanced translocation (46, XY, —17, +t (17p; lOq) are described. From an analysis of the phenotypes of these patients and others reported with lOq trisomy, we propose that the trisomy 1Oq 24-26 syndrome includes: growth and mental retardation, a characteristic facies (microcephaly, flat face with spacious forehead, small nose, depressed nasal bridge, arched wide-spaced eyebrows, blepharophimosis, microphthamia, low-set ears, bow-shaped mouth with prominent upper lip, micrognathia), palate anomalies (high-arched cleft or agenesis), congenital heart disease, and anomalies of the hands and feet. Anomalies common to the cousins, but not described in other patients with trisomy 1Oq, are believed to be expressions of a partial monosomy of 17p.

scholarly journals Urachal remnant carcinoma - a rare entity

2013 ◽  
Vol 17 (2) ◽  
pp. 63-64
Author(s):  
Vanesha Naidu ◽  
Narisha Maharaj ◽  
Ayesha Mitha ◽  
Jaynund Maharajh ◽  
Bhugwan Singh
Keyword(s):  
Clinical Course ◽  
Late Presentation ◽  
Imaging Features ◽  
Rare Entity ◽  
Primary Malignancy ◽  
Urachal Carcinoma ◽  
Urachal Remnant ◽  
Characteristic Imaging ◽  
Sister Mary Joseph’S Nodule ◽  
Initial Clinical Evaluation

Primary malignancy of the urachal remnant is a rare neoplasm that accounts for less than 0.01% of all adult cancers, with an estimated annual incidence of 1:5 million. The tumour carries a grave prognosis that attests to its highly aggressive nature. Owing to its extra-peritoneal location, the tumour runs a relatively silent clinical course until late presentation, when most patients display extensive local invasion and metastatic spread. In this report, we highlight a case of primary malignancy of the urachus that on initial clinical evaluation masqueraded as a Sister Mary Joseph’s nodule. Characteristic imaging features, however, proved decisive in establishing the diagnosis of a urachal carcinoma.

PARTIAL TRISOMY OF CHROMOSOME 15

The Lancet ◽  
1972 ◽  
Vol 299 (7759) ◽  
pp. 1073 ◽  
Author(s):  
CharlesE. Parker ◽  
OmarS. Alfi
Keyword(s):  
Partial Trisomy ◽  
Chromosome 15

Papillary thyroid carcinoma with exuberant nodular fasciitis-like stroma: treatment outcome and prognosis

2006 ◽  
Vol 120 (4) ◽  
pp. 338-342 ◽  
Author(s):  
S Basu ◽  
N Nair ◽  
T Shet ◽  
A M Borges
Keyword(s):  
Papillary Thyroid Carcinoma ◽  
Thyroid Carcinoma ◽  
Clinical Course ◽  
Nodular Fasciitis ◽  
Rare Entity ◽  
Papillary Thyroid ◽  
Radioiodine Treatment ◽  
Long Term Follow Up

Papillary thyroid carcinoma with nodular fasciitis-like stroma (PTC-NFS) is one of the extremely rare variants of papillary thyroid carcinoma. To date, the majority of reported cases have been published in the surgical pathology and cytopathology literature, addressing the diagnostic difficulties posed by the condition's extensive, reactive stromal proliferation. Because of the rarity of PTC-NFS among papillary thyroid carcinoma variants, it has been unexplored from a clinical viewpoint. A MEDLINE search on the clinical course, role of radioiodine, treatment outcome and long term follow up of this disease yielded no result.We report the clinicoradiologic and histopathologic profile, together with post-treatment long term follow up, in a 35-year-old woman harbouring this rare entity. To the best of our knowledge, this is the first report of a five-year follow up of this rare variant of PTC following total thyroidectomy and radioiodine treatment. Our follow-up findings reiterate the disease's favourable clinical course when managed in the same manner as a classical, differentiated papillary carcinoma of the thyroid, akin to that predicted by the pathologists, and emphasize the importance of differentiating PTC-NFS as a separate entity from the papillary carcinoma variants with aggressive histology. Given the rarity of this condition, the experience gained from the present case is a useful addition to the current knowledge on disease prognostication and management.A systematic review of the existing literature on PTC-NFS, including the case reported in the present paper, is also carried out, aiming to explore the patient characteristics and clinical behaviour pattern of this rare entity and to make appropriate recommendations on management strategy. The age of presentation ranges from 20 to 82 years, with a mean of 44.5 years. Female preponderance was observed, with a female to male ratio of 3[ratio ]1. No racial predilection was observed. Tumour size varied from 2 to 9 cm along its greatest diameter (mean = 4.3 cm). Metastasis to lymph nodes at presentation occurred in 25 per cent of cases. Metastasis to surrounding structures (e.g. parathyroid and skeletal muscle) was observed in 12.5 per cent. There have been no reports of pulmonary or skeletal metastasis at presentation.

scholarly journals Aggressive Angiomyolipomas: the Clandestine Epithelioid Variant

2015 ◽  
Vol 9 (1) ◽  
pp. 54-56 ◽  
Author(s):  
Anton Maré ◽  
Shehan Wickramasinghe ◽  
Victor Ilie ◽  
Maurice Mulcahy
Keyword(s):  
Distant Metastasis ◽  
Clinical Course ◽  
Case Reports ◽  
Malignant Potential ◽  
Benign Tumour ◽  
Rare Entity ◽  
Epithelioid Angiomyolipoma ◽  
Epithelioid Variant

Epithelioid angiomyolipoma is a rare mesenchymal derived neoplasm of the kidney. Thought to be a variant of classical angiomyolipoma, a benign tumour, its malignant potential has been highlighted by case reports of loco-regional and distant metastasis. Given the potentially adverse clinical course associated with epithelioid angiomyolipoma compared to classical angiomyolipoma, the distinction and comprehensive histological characterisation of this rare entity is essential.

scholarly journals Torsion of an Encysted Fluid Collection

2007 ◽  
Vol 7 ◽  
pp. 822-824 ◽  
Author(s):  
Atilla Senayli ◽  
Yesim Senayli ◽  
Engin Sezer ◽  
Taner Sezer
Keyword(s):  
Clinical Course ◽  
Fluid Collection ◽  
Acute Scrotum ◽  
Rare Entity ◽  
Tunica Vaginalis ◽  
Hernia Sac ◽  
Pathologic Evaluation ◽  
Testis Torsion

Torsion of a cyst within the tunica vaginalis is a rare entity and clinical course can easily be confused with other diseases that cause acute scrotum. We report a 6-year-old child with 3 days of acute scrotum findings. Patient had surgery with the suspicion of testis torsion. Torsion of a cyst within the tunica vaginalis was found intraoperatively. In pathologic evaluation, a necrotic funicular cyst was diagnosed. Two different mechanisms were reported for the reason of this disease: hernia sac protrusion in the hydrocele sac and bell-clapper deformity. Our observations were on the side of bell-clapper deformity. We aimed to share our findings with this report.

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