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.

scholarly journals Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance

2018 ◽  
Vol 93 (4) ◽  
pp. 752-761 ◽  
Author(s):  
Z. Powis ◽  
K.D. Farwell Hagman ◽  
C. Mroske ◽  
K. McWalter ◽  
J.S. Cohen ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Global Developmental Delay ◽  
Dysmorphic Features ◽  
Reduced Penetrance

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.

scholarly journals Clinical Profiles, Congenital Heart Disease, and Other Comorbidities Among Egyptian Children with Down Syndrome: A Tertiary Center Study

2021 ◽  
Vol 11 (01) ◽  
pp. e233-e239
Author(s):  
Radwa Ezzat Amin ◽  
Iman Ehsan Abdel-Meguid ◽  
Nihal Mohamed El-Refaie ◽  
Walaa Fakher ◽  
Dina El-Tabie ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Down Syndrome ◽  
Heart Disease ◽  
Developmental Delay ◽  
Congenital Heart ◽  
Thyroid Dysfunction ◽  
Septal Defect ◽  
Dysmorphic Features ◽  
Tertiary Center ◽  
Clinical Profiles

Abstract Introduction Down syndrome (DS) is the most common chromosomal disorder. It is accompanied by several comorbidities, which could lead to severe morbidity and mortality. Congenital heart disease (CHD) is one of the most commonly described condition. Objective This study aimed to determine clinical profiles, dysmorphic features, CHD, and DS associated comorbidities in a tertiary center (Cairo, Egypt). Patients and Methods This descriptive study included 290 patients diagnosed with DS, who presented to the Clinical Genetics clinic, Cairo University Children Hospitals, from February 2018 to December 2019. The patients' ages ranged from 2 to 4 years old. All patients were evaluated by full history, clinical examination, anthropometric measurements, and assessment of developmental milestones. Patients' diagnostic investigations including karyotype, thyroid function, and echocardiography were checked. Results The study population consisted of 290 children with DS of which 196 (67.6%) were male, 115 (40%) had CHD, the most prevalent atrial septal defect (ASD), patent ductus arteriosus (PDA), and ventricular septal defect (VSD) accounting for 10.7, 7.1, and 4.2%, respectively. Common dysmorphic features were upward slanting palpebral fissures (98.6%), hypertelorism (97.9%), and sandal gap (60.7%). Thyroid dysfunction was the second prevalent comorbidity, found in 35 patients (12.1%). Global developmental delay was reported affecting language (99%), motor (94.8%), and social (92.8%) domains. Conclusion The prevalence of CHD among children with DS was 40% with ASD, PDA, and VSD being the commonest. Thyroid dysfunction was the second most common comorbidity. The most prevalent dysmorphic features were upward slanting palpebral fissures, hypertelorism, and sandal gap. Developmental delay was very common, language being the most affected domain.

Biallelic null variants in ZNF142 cause global developmental delay with familial epilepsy and dysmorphic features

2021 ◽  
Author(s):  
Shinichi Kameyama ◽  
Takeshi Mizuguchi ◽  
Hiromi Fukuda ◽  
Lip Hen Moey ◽  
Wee Teik Keng ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Global Developmental Delay ◽  
Dysmorphic Features

scholarly journals Adenosine Kinase Deficiency: Report and Review

2018 ◽  
Vol 50 (01) ◽  
pp. 046-050 ◽  
Author(s):  
Alhanouf Alhusani ◽  
Abdulrahman Obaid ◽  
Henk Blom ◽  
Anna Wedell ◽  
Majid Alfadhel
Keyword(s):  
Developmental Delay ◽  
Autosomal Recessive Disorder ◽  
Mendelian Inheritance ◽  
Developmental Dysplasia ◽  
Adenosine Kinase ◽  
Global Developmental Delay ◽  
Tall Stature ◽  
Current Case ◽  
Dysmorphic Features ◽  
The Central Nervous System

AbstractAdenosine kinase (ADK) deficiency (OMIM [online mendelian inheritance in man]: 614300) is an autosomal recessive disorder of adenosine and methionine metabolism, with a unique clinical phenotype, mainly involving the central nervous system and dysmorphic features. Patients usually present early in life with sepsis-like symptoms, respiratory difficulties, and neonatal jaundice. Subsequently, patients demonstrate hypotonia and global developmental delay. Biochemically, methionine is elevated with normal homocysteine levels and the diagnosis is confirmed through molecular analysis of the ADK gene. There is no curative treatment; however, a methionine-restricted diet has been tried with variable outcomes. Herein, we report a 4-year-old Saudi female with global developmental delay, hypotonia, and dysmorphic features. Interestingly, she has a tall stature, developmental dysplasia of the hip, optic nerve gliosis, and tigroid fundus. We found a mutation not reported previously and we compared the current case with previously reported cases. We alert clinicians to consider ADK deficiency in any neonate presenting with global developmental delay, hypotonia, dysmorphic features, and high methionine levels.

scholarly journals 22q13.32 Deletion and Duplication and Inversion in the Same Family: A Rare Occurrence

2011 ◽  
Vol 2011 ◽  
pp. 1-4 ◽  
Author(s):  
Farooqua Jafri ◽  
James Fink ◽  
Rodney R. Higgins ◽  
Raymond Tervo
Keyword(s):  
Genetic Testing ◽  
Developmental Delay ◽  
Early Infancy ◽  
Deletion Syndrome ◽  
Global Developmental Delay ◽  
Rare Occurrence ◽  
Dysmorphic Features ◽  
Chromosome Imbalance ◽  
And Inversion ◽  
22Q13.3 Deletion Syndrome

Chromosome 22q13.3 deletion syndrome is a well-recognized cause of global developmental delay, while duplication of the same chromosome is a rare occurrence. The presence of both abnormalities in the same family has never been reported, to our knowledge. We report a rare occurrence of 22q13.3 duplication and 22q13.3 deletion in siblings, as a consequence of a mother's inversion on her 22nd chromosome (p13;q13.32). A 6 year old male was noted in infancy to have mild global developmental delay without dysmorphic features. His genetic testing revealed he had 22q13.3 duplication to the terminus. His 4 year old brother was noted in early infancy to have severe global developmental delay and dysmorphic features related to 22q13.3 deletion to the terminus. Their mother had a long inversion on her 22nd chromosome. Genetic tests for their father and eldest brother were unremarkable. The mother's inversion may rearrange to form 22q duplication or deletion when passed on to children. The chance of a child born with a chromosome imbalance is as high as 50%.

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.

scholarly journals Multiple Coronary Artery Microfistulas in a Girl with Kleefstra Syndrome

2016 ◽  
Vol 2016 ◽  
pp. 1-5
Author(s):  
Euthymia Vargiami ◽  
Athina Ververi ◽  
Hamda Al-Mutawa ◽  
Georgia Gioula ◽  
Spyridon Gerou ◽  
...  
Keyword(s):  
Coronary Artery ◽  
Developmental Delay ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
De Novo ◽  
Heart Defects ◽  
Dysmorphic Features ◽  
Kleefstra Syndrome

Kleefstra syndrome is characterized by hypotonia, developmental delay, dysmorphic features, congenital heart defects, and so forth. It is caused by 9q34.3 microdeletions orEHMT1mutations. Herein a 20-month-old girl with Kleefstra syndrome, due to a de novo subterminal deletion, is described. She exhibits a rare and complex cardiopathy, encompassing multiple coronary artery microfistulas, VSD/ASD, and PFO.

scholarly journals NCOG-62. CNS SARCOMA IN A TODDLER WITH NOVEL BALANCED TRANSLOCATION OF t(8;11)(q13;q13)

2020 ◽  
Vol 22 (Supplement_2) ◽  
pp. ii143-ii143
Author(s):  
Prabhumallikarjun Patil
Keyword(s):  
Developmental Delay ◽  
Lateral Ventricle ◽  
Normal Karyotype ◽  
Global Developmental Delay ◽  
Pathology Report ◽  
Low Grade ◽  
Balanced Translocation ◽  
Undifferentiated Sarcoma ◽  
Left Lateral Ventricle ◽  
Initial Surgery

Abstract A CASE REPORT A 23-month-old boy was noted to have a brain tumor after being evaluated for chronic global developmental delay. The initial neurological exam was concerning for left leg circumduction and drag. Further investigation with MRI demonstrated a 7 x 9.3 x 7.4 cm supratentorial cystic encapsulated mass identified in the right lateral ventricle with heterogeneously enhancing mural nodule measuring 0.9 x 2.7 x 3.3 cm in diameter. Capsular enhancement was also noted after contrast administration. No diffusion restriction was seen. Mass effect on septum pellucidum was seen along with an increase in size of the left lateral ventricle. Following which the patient underwent right posterior parietal craniotomy and gross total resection of the tumor. Pathology report based on the cellular appearance, cell density, presence of necrosis, and the proliferative activity classified the tumor as likely intermediate grade undifferentiated sarcoma, mostly mesenchymal in origin. Tumor cytogenetics showed balanced translocation (8;11) (q13; q13) in all metaphase cells. Cytogenetics performed on the blood sample showed normal karyotype, suggesting that the translocation seen in tumor cells was somatic in nature rather and not a germline mutation. As the radiological signs and the long clinical course of the disease (evidenced by global developmental delay noted more than a year prior to a presentation and no signs of disseminated disease) suggested it to be a low-grade tumor a decision was made not to treat aggressively with further chemo and radiotherapy. However, the pathology of the tumor was suggestive of a primary malignant undifferentiated sarcoma of the brain. The patient continued to do well with no signs of recurrence on MRI and/or clinical picture for 4 years after the initial surgery. DISCUSSION Primary CNS sarcoma is rare. Balanced translocation (8;11) (q13; q13) has not been described in the literature before.

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