scholarly journals Prenatal Diagnosis of Combined Maternal 4q Interstitial Deletion and Paternal 15q Microduplication

Genes ◽  
2021 ◽  
Vol 12 (10) ◽  
pp. 1626
Author(s):  
Francesco Libotte ◽  
Marco Fabiani ◽  
Katia Margiotti ◽  
Antonella Viola ◽  
Alvaro Mesoraca ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Clinical Manifestations ◽  
Interstitial Deletion ◽  
Deletion Syndrome ◽  
Comparative Genomic ◽  
Chromosome 4 ◽  
Female Fetus ◽  
Phenotypic Spectrum ◽  
Unusual Variant ◽  
Ultrasound Evidence

The 4q deletion syndrome is a well-known rare genetic condition caused by partial, terminal, or interstitial deletion in the long arm (q) of chromosome 4. The phenotype of this syndrome shows a broad spectrum of clinical manifestations due to the great variability in the size and location of the deletion. In the literature, the mostly terminal deletions of chromosome 4q and the relative phenotypes are described, while the interstitial deletions of the long arm of chromosome 4 are rarely cited. Here, we report on a female fetus presenting no abnormal ultrasound evidence but with multiple chromosome aberrations. Comparative genomic hybridization (aCGH) revealed an interstitial 10.09 Mb deletion at the chromosome at the region of 4q28, arr[hg19] 4q28.1q28.3 (124068262_134158728)x1 combined with a 386.81 Kb microduplication at chromosome 15q11.1, arr[hg19] 15.11 (20249932_20636742)x3. At birth, and after 11 months, the baby was confirmed healthy and normal. The identification of this case allows for a deeper understanding of 4q syndrome and provides an explanation for the wide genetic/phenotypic spectrum of this pathology. This report can provide a reference for prenatal diagnosis and genetic counseling in patients who have similar cytogenetic abnormalities, and underlines the importance of reporting unusual variant chromosomes for diagnostic genetic purposes.

Prenatal diagnosis of 5p deletion syndrome in a female fetus leading to identification of the same diagnosis in her mother

2014 ◽  
Vol 34 (11) ◽  
pp. 1115-1118 ◽  
Author(s):  
Joanne Macayran Nguyen ◽  
Candace Gamble ◽  
Janice L. Smith ◽  
Marianna Raia ◽  
Anthony Johnson ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Deletion Syndrome ◽  
Female Fetus ◽  
5P Deletion

scholarly journals Clinical Manifestations of Partial Trisomy 4p

2010 ◽  
Vol 13 (2) ◽  
pp. 61-63
Author(s):  
O Demirhan ◽  
F Özgünen ◽  
D Taştemir
Keyword(s):  
De Novo ◽  
Ultrasound Examination ◽  
Clinical Manifestations ◽  
Partial Trisomy ◽  
Defect Analysis ◽  
Chromosome 4 ◽  
Female Fetus ◽  
Dysmorphic Features ◽  
Severe Growth ◽  
Lung And Kidney

Clinical Manifestations of Partial Trisomy 4pWe made the diagnosis prenatally from cytogenetic analysis of amniocytes cultured following amniocentesis performed at 20 weeks' gestation on a woman in whom ultrasound examination of the female fetus showed severe growth retardation, lung and kidney hypoplasia, and a congenital heart defect. Analysis revealed a de novo trisomy of the terminal short arm of chromosome 4 (4p16.1-pter). The parents opted to terminate the pregnancy. Fetopathological examination showed dysmorphic features and other abnormalities consistent with clinical manifestations of partial trisomy 4p.

scholarly journals Cerebral White Matter Lesions and Dysmorphisms: Signs Suggestive of 6p25 Deletion Syndrome—Literature Review

2019 ◽  
Vol 08 (04) ◽  
pp. 205-211
Author(s):  
Piero Pavone ◽  
Simona Domenica Marino ◽  
Giovanni Corsello ◽  
Martino Ruggieri ◽  
Danilo Castellano Chiodo ◽  
...  
Keyword(s):  
White Matter ◽  
Developmental Delay ◽  
De Novo ◽  
Clinical Manifestations ◽  
Deletion Syndrome ◽  
Cerebral White Matter ◽  
Comparative Genomic ◽  
Facial Dysmorphism ◽  
Perivascular Spaces ◽  
Renal Malformations

AbstractDeletion of the region including chromosome 6p25 has been defined as a syndrome, with more than 68 reported cases. Individuals affected by the syndrome exhibit variable findings, including developmental delay and intellectual disability, cardiac anomalies, dysmorphic features, and—less commonly—skeletal and renal malformations. Ocular and hearing abnormalities are the most notable presenting features. The region encompasses more than 15 genes, of which the FOX group is the most likely causal factor of the clinical manifestations. We report the case of a 2-year-old child with developmental delay, generalized hypotonia, facial dysmorphism, and anomalies involving malformations of the eyes, heart, teeth, and skeleton. The magnetic resonance imaging (MRI) of the child's brain displayed cerebral anomalies involving the white matter, perivascular spaces, and corpus callosum. Array-CGH (comparative genomic hybridization) analysis displayed a de novo partial deletion of the short arm of chromosome 6, extending 5.13 Mb from nt 407.231 to nt 5.541.179. In infancy, neuroradiologic findings of abnormalities in the cerebral white matter and other neurologic anomalies elsewhere in the brain, in association with dysmorphisms and malformations, are highly suggestive of the diagnosis of 6p25 deletion syndrome. When these anomalies are found, the syndrome must be included in the differential diagnosis of disorders affecting the cerebral white matter.

scholarly journals Prenatal Diagnosis of Cystic Hygroma related to a Deletion of 16q24.1 with Haploinsufficiency of FOXF1 and FOXC2 Genes

2012 ◽  
Vol 2012 ◽  
pp. 1-4 ◽  
Author(s):  
Matthew J. Garabedian ◽  
Donna Wallerstein ◽  
Nubia Medina ◽  
James Byrne ◽  
Robert J. Wallerstein
Keyword(s):  
Prenatal Diagnosis ◽  
Gene Cluster ◽  
Comparative Genomic Hybridization ◽  
Birth Defects ◽  
Array Comparative Genomic Hybridization ◽  
Cystic Hygroma ◽  
Comparative Genomic ◽  
Genomic Hybridization ◽  
Phenotypic Spectrum

We report the prenatal diagnosis of cystic hygroma that was subsequently identified to have haploinsufficiency of the FOXF1 and FOXC2 genes via array comparative genomic hybridization (aCGH). Deletion o f these genes has previously neither been associated with cystic hygroma nor prenatally diagnosed. The FOX gene cluster is involved in cardiopulmonary development. This case expands the phenotypic spectrum o f abnormalities of the FOXF1 and FOXC2 genes, as it seems within the spectrum of function that disruption of the FOX gene cluster would lead to include abnormalities of prenatal onset. Identification of this association would not be possible with conventional karyotype or targeted aCGH. This case highlights the power of whole genomic aCGH to further delineate the etiology of birth defects.

scholarly journals Prenatal Diagnosis of Small Supernumerary Marker Chromosome 10 by Array-Based Comparative Genomic Hybridization and Microdissected Chromosome Sequencing

Biomedicines ◽  
2021 ◽  
Vol 9 (8) ◽  
pp. 1030
Author(s):  
Igor N. Lebedev ◽  
Tatyana V. Karamysheva ◽  
Eugeny A. Elisaphenko ◽  
Alexey I. Makunin ◽  
Daria I. Zhigalina ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Comparative Genomic Hybridization ◽  
Genetic Counselling ◽  
Marker Chromosome ◽  
Clinical Manifestations ◽  
Pericentromeric Region ◽  
Ring Structure ◽  
Comparative Genomic ◽  
Genomic Hybridization ◽  
Chromosome 10

Interpreting the clinical significance of small supernumerary marker chromosomes (sSMCs) in prenatal diagnosis is still an urgent problem in genetic counselling regarding the fate of a pregnancy. We present a case of prenatal diagnosis of mosaic sSMC(10) in a foetus with a normal phenotype. Comprehensive cytogenomic analyses by array-based comparative genomic hybridization (aCGH), sSMC microdissection with next-generation sequencing (NGS) of microdissected library, fluorescence in situ hybridization (FISH) with locus-specific and telomere-specific DNA probes and quantitative real-time PCR revealed that sSMC(10) had a ring structure and was derived from the pericentromeric region of chromosome 10 with involvement of the 10p11.21-p11.1 and 10q11.21-q11.23 at 1.243 Mb and 7.173 Mb in size, respectively. We observed a difference in the length of sSMC(10) between NGS data of the DNA library derived from a single copy of sSMC(10), and aCGH results that may indicate instability and structural mosaicism for ring chromosomes in foetal cells. The presence of a 9 Mb euchromatin region in the analysed sSMC(10) did not lead to clinical manifestations, and a healthy girl was born at term. We suggest that the ring structure of sSMCs could influence sSMC manifestations and should be taken into account in genetic counselling during prenatal diagnosis.

scholarly journals Deletion of 7q33-q35 in a Patient with Intellectual Disability and Dysmorphic Features: Further Characterization of 7q Interstitial Deletion Syndrome

2015 ◽  
Vol 2015 ◽  
pp. 1-5 ◽  
Author(s):  
Kristen Dilzell ◽  
Diana Darcy ◽  
John Sum ◽  
Robert Wallerstein
Keyword(s):  
Intellectual Disability ◽  
Interstitial Deletion ◽  
Deletion Syndrome ◽  
Comparative Genomic ◽  
Facial Features ◽  
Chromosome Deletion ◽  
Recent Onset ◽  
Dysmorphic Features ◽  
7Q Deletion

This case report concerns a 16-year-old girl with a 9.92 Mb, heterozygous interstitial chromosome deletion at 7q33-q35, identified using array comparative genomic hybridization. The patient has dysmorphic facial features, intellectual disability, recurrent infections, self-injurious behavior, obesity, and recent onset of hemihypertrophy. This patient has overlapping features with previously reported individuals who have similar deletions spanning the 7q32-q36 region. It has been difficult to describe an interstitial 7q deletion syndrome due to variations in the sizes and regions in the few patients reported in the literature. This case contributes to the further characterization of an interstitial distal 7q deletion syndrome.

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