Distal partial trisomy 1q: report of two cases and a review of the literature

2007 ◽  
Vol 27 (9) ◽  
pp. 865-871 ◽  
Author(s):  
G. E. Utine ◽  
D. Aktas ◽  
Y. Alanay ◽  
S. Gücer ◽  
E. Tuncbilek ◽  
...  
Keyword(s):  
Partial Trisomy ◽  
Review Of The Literature

Ocular findings in partial trisomy 3q: A case report and review of the literature

1988 ◽  
Vol 9 (2) ◽  
pp. 127-130 ◽  
Author(s):  
Georgia Antonakou Chrousos ◽  
John F. O'neill ◽  
Elias I. Traboulsi ◽  
Anne Richmond ◽  
Kenneth N. Rosenbaum
Keyword(s):  
Case Report ◽  
Partial Trisomy ◽  
Review Of The Literature ◽  
Ocular Findings

Partial trisomy 10 mosaicism with cutaneous manifestations: report of a case and review of the literature

2008 ◽  
Vol 50 (5) ◽  
pp. 417-421 ◽  
Author(s):  
Catherine Boon ◽  
Tom Wlarkello ◽  
Colleen Jackson-Cook ◽  
Arti Pandya
Keyword(s):  
Partial Trisomy ◽  
Review Of The Literature ◽  
Cutaneous Manifestations

scholarly journals A Case of Inherited t(4;10)(q26;q26.2) Chromosomal Translocation Elucidated by Multiple Chromosomal and Molecular Analyses. Case Report and Review of the Literature

Genes ◽  
2021 ◽  
Vol 12 (12) ◽  
pp. 1957
Author(s):  
Roxana Popescu ◽  
Mihaela Grămescu ◽  
Lavinia Caba ◽  
Monica-Cristina Pânzaru ◽  
Lăcrămioara Butnariu ◽  
...  
Keyword(s):  
Congenital Heart ◽  
Array Cgh ◽  
Neonatal Period ◽  
Chromosomal Translocation ◽  
Partial Trisomy ◽  
Chromosomal Anomalies ◽  
Review Of The Literature ◽  
Multiple Congenital Anomalies ◽  
Bulbous Tip ◽  
Short Philtrum

We present a complex chromosomal anomaly identified using cytogenetic and molecular methods. The child was diagnosed during the neonatal period with a multiple congenital anomalies syndrome characterized by: flattened occipital region; slight turricephaly; tall and broad forehead; hypertelorism; deep-set eyes; down slanting and short palpebral fissures; epicanthic folds; prominent nose with wide root and bulbous tip; microstomia; micro-retrognathia, large, short philtrum with prominent reliefs; low set, prominent ears; and congenital heart disease. The GTG banding karyotype showed a 46,XY,der(10)(10pter→10q26.2::4q26→4qter) chromosomal formula and his mother presented an apparently balanced reciprocal translocation: 46,XX,t(4;10)(q26;q26.2). The chromosomal anomalies of the child were confirmed by MLPA, and supplementary investigation discovered a quadruplication of the 4q35.2 region. The mother has a triplication of the same chromosomal fragment (4q35.2). Using array-CGH, we described the anomalies completely. Thus, the boy has a 71,057 kb triplication of the 4q26–q35.2 region, a 562 kb microdeletion in the 10q26.3 region, and a 795 kb quadruplication of the 4q35.2 region, while the mother presents a 795 kb triplication of the 4q35.2 region. Analyzing these data, we consider that the boy’s phenotype is influenced only by the 4q partial trisomy. We compare our case with similar cases, and we review the literature data.

Choroidal artery embolization in the management of cerebrospinal fluid overproduction: case report and review of the literature

2019 ◽  
Vol 23 (6) ◽  
pp. 737-748 ◽  
Author(s):  
Daphne Li ◽  
Tahaamin Shokuhfar ◽  
Julia Pantalone ◽  
Brian Rothstein ◽  
Tord D. Alden ◽  
...  
Keyword(s):  
Choroid Plexus ◽  
Partial Trisomy ◽  
Chromosome 9 ◽  
Communicating Hydrocephalus ◽  
Review Of The Literature ◽  
Artery Embolization ◽  
Radiographic Evidence ◽  
Genetic Abnormalities ◽  
Choroidal Artery ◽  
Trisomy 9P

Diffuse villous hyperplasia of the choroid plexus (DVHCP) is a rare cause of communicating hydrocephalus. DVHCP may be diagnosed radiographically and through histological evaluation. It may be associated with genetic abnormalities, particularly involving chromosome 9. Due to CSF overproduction, patients with DVHCP often fail management with shunting alone and may require adjuvant interventions. The authors present the case of a child with partial trisomy 9p and delayed diagnosis of hydrocephalus with radiographic evidence of DVHCP who was successfully managed with ventriculoperitoneal shunt (VPS) placement, adjuvant bilateral endoscopic choroid plexus coagulation (CPC), and the novel application of anterior choroidal artery embolization. In addition, a systematic MEDLINE search was conducted using the keywords “diffuse villous hyperplasia,” “choroid plexus hypertrophy,” and “idiopathic cerebrospinal fluid overproduction.” Clinicopathological characteristics and outcomes of the present case were reviewed and compared to those in the literature.A 14-month-old girl with partial trisomy 9p presented with macrocephaly and radiographic evidence of communicating hydrocephalus and DVHCP. Ventriculoperitoneal shunting resulted in distal failure due to inadequate CSF absorption, and ventriculoatrial shunt (VAS) placement was not possible due to multiple cardiac anomalies. Daily CSF production was reduced via endoscopic third ventriculostomy and bilateral CPC, followed by distal choroidal artery embolization, enabling VPS re-internalization. The embolization was complicated by radiographic evidence of an iatrogenic cerebral infarct, but this was clinically occult. Thirty-two additional cases of communicating hydrocephalus due to DVHCP are reported in the literature: 27 pediatric, 3 adult, and 2 postmortem. Genetic abnormalities were noted in 14, with 7 (50%) involving chromosome 9. Twelve patients underwent plexectomy (9 bilateral, 2 unilateral, 1 partial), and 10 underwent CPC (4 bilateral, 3 unilateral, and 3 unspecified), with or without shunting. Eight patients were successfully managed with shunting alone (6 VASs, 2 VPSs), and none underwent arterial embolization.DVHCP is a rare cause of communicating hydrocephalus that may be associated with genetic abnormalities. A thorough review of the literature highlights diagnostic criteria and interventional options involved in managing this cause of CSF overproduction. The present case demonstrates that angiographic confirmation of prominent choroidal arteries may contribute to the diagnosis DVHCP. In addition, embolization of the distal choroidal arteries may be considered as a potential adjuvant treatment in patients for whom conventional treatments have failed or are not feasible.

Partial trisomy 9p and 14q microduplication in a patient with growth retardation: a case report and review of the literature

2020 ◽  
Vol 33 (3) ◽  
pp. 431-436
Author(s):  
Jing Fan ◽  
Jing Zhou ◽  
Diaozhu Lin ◽  
Ying Guo ◽  
Shaohua Li ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Growth Retardation ◽  
Extra Chromosome ◽  
Partial Trisomy ◽  
Adolescent Female ◽  
Review Of The Literature ◽  
Mild Intellectual Disability ◽  
Case Presentation ◽  
Trisomy 9P ◽  
Chromosome Microarray

AbstractBackgroundTrisomy is a common chromosomal aberration, which usually presents with similar phenotypic abnormalities and developmental delay. Although defined as chromosome abnormalities with recognized symptoms including growth retardation, trisomy 9p and trisomy 14q have been rarely reported to occur at the same time.Case presentationHere, we describe a 16-year-old adolescent female affected by developmental delay and mild intellectual disability. She was confirmed to have both partial trisomy 9p (p24.3-p23) and 14q11.2 microduplication by chromosome microarray analysis (CMA). It is speculated that the extra chromosome in the patient may be a derivative 14 chromosome inherited from the parent after 3:1 disjunction during meiosis. The extra 9p segment proves to be pathogenic while the duplicated 14q11.2 remains indefinite.ConclusionsFurther studies are needed to assign the genes responsible for the developmental delay and craniofacial dysmorphisms and appoint dosage-sensitive genes of chromosome 9p.

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