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.

Molecular Delineation of Partial Trisomy 14q and Partial Trisomy 12p in a Patient with Dysmorphic Features, Heart Defect and Developmental Delay

2015 ◽  
Vol 145 (1) ◽  
pp. 14-18 ◽  
Author(s):  
Divya Bose ◽  
Venkatesh Krishnamurthy ◽  
K.S. Venkatesh ◽  
Mohamed Aiyaz ◽  
Mitesh Shetty ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Congenital Heart ◽  
Array Cgh ◽  
Partial Trisomy ◽  
Oligonucleotide Array ◽  
Global Developmental Delay ◽  
Potential Candidate ◽  
Balanced Translocation ◽  
Dysmorphic Features ◽  
Novel Association

This study describes a molecular analysis of partial trisomy 14q and partial trisomy 12p in a 5-year-old male child presenting with dysmorphic features, congenital heart disease and global developmental delay. Chromosomal analysis of the patient with GTG bands revealed a 47,XY,+der(14)t(12;14)(p13;q22)mat karyotype; the mother's karyotype was 46,XX,t(12;14)(p13;q22). Further, oligonucleotide array- CGH studies revealed an amplification of 32.3 Mb in the 14q11.1q22.1 region, substantiating partial trisomy 14q and additionally displaying an amplification of ∼1 Mb in the 12p13.3pter region for partial trisomy 12p. This is the first study to demonstrate a novel association of partial trisomies of 14q and 12p due to a 3:1 segregation of a maternal balanced translocation involving chromosomes 12 and 14. Gene ontology studies indicated 5 potential candidate genes in the amplified regions for the observed congenital anomalies.

Prenatal Diagnosis of Trisomy 2p due to Terminal 2p Duplication including Interstitial Telomeric Sequences

2017 ◽  
Vol 153 (3) ◽  
pp. 117-124 ◽  
Author(s):  
Lyvia Marlet ◽  
Eudeline Alix ◽  
Marianne Till ◽  
Fabienne Raskin-Champion ◽  
Jocelyne Attia ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Congenital Heart ◽  
Unusual Case ◽  
Array Cgh ◽  
Partial Trisomy ◽  
Chromosome 2 ◽  
Telomeric Sequences ◽  
Inverted Duplication ◽  
Interstitial Telomeric Sequences ◽  
Heart Malformation

We report on a prenatally diagnosed unusual case of inverted terminal duplication of the short arm of chromosome 2, leading to interstitial telomeric sequences (ITSs) and partial trisomy 2p. To our knowledge, there are only 4 further cases of pure partial trisomy 2p reported prenatally. Here, the mother was referred at 22 weeks of gestation for isolated fetal congenital heart malformation at ultrasound. The karyotype of amniotic fluid cells displayed a large duplication of the short arm of chromosome 2 that was further investigated by array-CGH, which detected a 1-copy gain of 43.75 Mb in chromosome 2 at 2p21p25.3. FISH confirmed the presence of an inverted duplication in the short arm of chromosome 2 involving the region 2p21pter and revealed the presence of ITSs at the breakpoint in chromosome 2p21. This report contributes to the prenatal description of the syndrome. We also discuss the possible mechanisms leading to this duplication and the formation of ITSs which are rarely described in constitutional rearrangements.

Cloverleaf skull and multiple congenital anomalies in a girl exposed to cocaine in utero: case report and review of the literature

2000 ◽  
Vol 16 (3) ◽  
pp. 0176 ◽  
Author(s):  
M. C. Esmer ◽  
G. Rodriguez-Soto ◽  
D. Carrasco-Daza ◽  
M. L. Iracheta ◽  
V. Del Castillo
Keyword(s):  
Case Report ◽  
Congenital Anomalies ◽  
In Utero ◽  
Review Of The Literature ◽  
Multiple Congenital Anomalies ◽  
Cloverleaf Skull

Monogenic Syndromes with Congenital Heart Diseases in Newborns (Diagnostic Clues for Neonatologists): A Critical Analysis with Systematic Literature Review

2021 ◽  
Author(s):  
Raffaele Falsaperla ◽  
Valentina Giacchi ◽  
Maria Giovanna Aguglia ◽  
Janette Mailo ◽  
Maria Grazia Longo ◽  
...  
Keyword(s):  
Systematic Review ◽  
Congenital Heart ◽  
Heart Diseases ◽  
Cost Effective ◽  
Monogenic Disease ◽  
Chromosomal Anomalies ◽  
Genetic Syndrome ◽  
Wide Range ◽  
Major Congenital Anomaly ◽  
Genomic Disorders

AbstractCongenital heart disease (CHD), the most common major congenital anomaly, is associated with a genetic syndrome (chromosomal anomalies, genomic disorders, or monogenic disease) in 30% of patients. The aim of this systematic review is to evaluate if, in the neonatal setting, clinical clues that orient the diagnostic path can be identified. For this purpose, we revised the most frequent dysmorphic features described in newborns with CHD, comparing those associated with monogenic syndromes (MSG) with the ones reported in newborns with genomic disorders. For this systematic review according to PRISMA statement, we used PubMed, Medline, Google Scholar, Scopus database, and search terms related to CHD and syndrome. We found a wide range of dysmorphisms (ocular region, ears, mouth, and/or palate and phalangeal anomalies) detected in more than half of MSGs were found to be associated with CHDs, but those anomalies are also described in genomic rearrangements syndromes with equal prevalence. These findings confirm that etiological diagnosis in newborns is challenging, and only the prompt and expert recognition of features suggestive of genetic conditions can improve the selection of appropriate, cost-effective diagnostic tests. However, in general practice, it is crucial to recognize clues that can suggest the presence of a genetic syndrome, and neonatologists often have the unique opportunity to be the first to identify abnormalities in the neonate.

THE UMBILICAL POLYP, A REMNANT OF THE OMPHALOMESENTERIC DUCT

PEDIATRICS ◽  
1957 ◽  
Vol 20 (1) ◽  
pp. 98-100
Author(s):  
Stanley E. Crawford
Keyword(s):  
Young Children ◽  
Intestinal Obstruction ◽  
Neonatal Period ◽  
Meckel’S Diverticulum ◽  
Meckel's Diverticulum ◽  
Recent Case ◽  
Early Age ◽  
Review Of The Literature ◽  
Omphalomesenteric Duct ◽  
Umbilical Polyp

THE PURPOSE of this paper is to report a recent case of an umbilical polyp and intestinal obstruction during the neonatal period. Umbilical polyps are rare. When present, they may be associated with Meckel's diverticulum because both are remnants of the omphalomesenteric duct. The presence of the visible polyp may give an external clue to otherwise obscure intraabdominal symptoms. A review of the literature earlier than 1916 is well summarized in a book by Thomas Cullen. This unusual volume lists six cases of umbilical polyp accompanied by other pathologic complications of Meckel's diverticulum. This author stressed that in these cases it should be pointed out to either the patient or his parents that possible intra-abdominal duct remnants may, at any time, give rise to symptoms such as intestinal obstruction. Penberthy and Benson reported a 9-year-old male with an umbilical polyp which had been present since birth and was without discharge. This youngster died following operation for intestinal obstruction due to volvulus about the diverticulum and its fibrous connection with the umbilical polyp. These authors pleaded for early elective operations in these cases prior to such complications. Gross gave other reasons for observation, and exploration at a reasonably early age, if a Meckel's diverticulum is suspected. Peritonitis from a ruptured Meckel's diverticulum is peculiarly dangerous; in young children the protecting omentum is inadequate and the migrating nature of the anomaly adds to the danger. Fluid from perforation of a diverticulum is usually of greater volume than that found in appendiceal rupture and abscess.

scholarly journals Genetic testing for coarctation of aorta

2018 ◽  
Vol 2 (s1) ◽  
pp. 64-66
Author(s):  
Yeltay Rakhmanov ◽  
Paolo Enrico Maltese ◽  
Alessandra Zulian ◽  
Tommaso Beccari ◽  
Munis Dundar ◽  
...  
Keyword(s):  
Congenital Heart ◽  
Neonatal Period ◽  
Heart Defects ◽  
Coarctation Of The Aorta ◽  
Coarctation Of Aorta ◽  
Descending Thoracic Aorta ◽  
Routine Examination ◽  
Live Births ◽  
Gene Test ◽  
Medial Thickening

Abstract Coarctation of the aorta (CoA) is an inherited narrowing of the proximal descending thoracic aorta. Histological features include localized medial thickening and infolding with superimposed neointimal tissue. CoA is diagnosed by detection of a murmur or hypertension during routine examination. Typical clinical features are delayed or absent femoral pulses and difference in blood pressure between the arm and legs. These symptoms may appear in the first weeks of life or after the neonatal period. CoA accounts for 4-6% of all congenital heart defects and has a reported prevalence of about 4 per 10,000 live births. It is more common in males than females (59% vs 41%). This Utility Gene Test was developed on the basis of an analysis of the literature and existing diagnostic protocols. It is useful for confirming diagnosis, as well as for differential diagnosis, couple risk assessment and access to clinical trials.

scholarly journals Modern Strategy for Identification of Congenital Heart Defects in the Neonatal Period

2016 ◽  
Vol 70 (5) ◽  
pp. 384 ◽  
Author(s):  
Mediha Kardasevic ◽  
Ida Jovanovic ◽  
Jelica Samardzic
Keyword(s):  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Neonatal Period ◽  
Heart Defects
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